ABSTRACT
Abstract Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236). Eighty-nine healthy individuals and Fifty-six Type 2 Diabetic (T2D) patients were investigated using RFLP technique for genotyping and haplotyping as well. The distribution of Apal genotypes was not statistically significant among the control (P=0.65) as well as for diabetic patients (P=0.58). For Taql allele frequencies of T allele was 0.61 where of G allele was 0.39. The frequency distribution of Taql genotypes was not statistically significant among the control (P=0.26) as well as diabetic patients (P=0.17). Relative risk of the allele T of Apa1 gene is 1.28 and the odds ratio of the same allele is 1.53, while both estimates were < 1.0 of the allele G. Similarly, with the Taq1 gene the relative risk and the odds ratio values for the allele T are 1.09 and 1.27 respectively and both estimates of the allele C were 0.86 for the relative risk and 0.79 for the odds ratio. The pairwise linkage disequilibrium between the two SNPs Taq1/apa1 was statistically significant in control group (D = 0.218, D' = 0.925 and P value < 0.001) and similar data in diabetic groups (D = 0.2, D' = 0.875 and P value < 0.001). These data suggest that the T allele of both genes Apa1 and Taq1 is associated with the increased risk of type 2 diabetes. We think that we need a larger number of volunteers to reach a more accurate conclusion.
Resumo Várias razões podem estar subjacentes ao aumento dramático da diabetes mellitus tipo 2. Um desses motivos é a base genética e variações. Os polimorfismos do receptor da vitamina D estão associados a diferentes doenças, como artrite reumatoide e diabetes. O objetivo deste estudo é investigar a possível associação de duas mutações identificadas ApaI (rs7975232) e TaqI (rs731236). Oitenta e nove indivíduos saudáveis e 56 pacientes com diabetes tipo 2 (T2D) foram investigados usando a técnica RFLP para genotipagem e haplotipagem também. A distribuição dos genótipos Apal não foi estatisticamente significativa entre o controle (P = 0,65), bem como para os pacientes diabéticos (P = 0,58). Para as frequências do alelo Taql, o alelo T foi de 0,61, onde o alelo G foi de 0,39. A distribuição de frequência dos genótipos Taql não foi estatisticamente significativa entre o controle (P = 0,26), bem como os pacientes diabéticos (P = 0,17). O risco relativo do alelo T do gene Apa1 é 1,28 e a razão de chances do mesmo alelo é 1,53, enquanto ambas as estimativas foram < 1,0 do alelo G. Da mesma forma, com o gene Taq1, os valores de risco relativo e razão de chances para o alelo T são 1,09 e 1,27, respectivamente, e ambas as estimativas do alelo C foram de 0,86 para o risco relativo e 0,79 para o odds ratio. O desequilíbrio de ligação par a par entre os dois SNPs Taq1 / apa1 foi estatisticamente significativo no grupo de controle (D = 0,218, D' = 0,925 e valor P < 0,001) e dados semelhantes em grupos diabéticos (D = 0,2, D' = 0,875 e valor P < 0,001). Esses dados sugerem que o alelo T de ambos os genes Apa1 e Taq1 está associado ao aumento do risco de diabetes tipo 2. Achamos que precisamos de um número maior de voluntários para chegar a uma conclusão mais precisa.
Subject(s)
Humans , Receptors, Calcitriol/genetics , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/epidemiology , Saudi Arabia , Case-Control Studies , Polymorphism, Single Nucleotide , Gene Frequency , GenotypeABSTRACT
Abstract In soybean breeding program, continuous selection pressure on traits response to yield created a genetic bottleneck for improvements of soybean through hybridization breeding technique. Therefore an initiative was taken to developed high yielding soybean variety applying mutation breeding techniques at Plant Breeding Division, Bangladesh Institute of Nuclear Agriculture (BINA), Bangladesh. Locally available popular cultivar BARI Soybean-5 was used as a parent material and subjected to five different doses of Gamma ray using Co60. In respect to seed yield and yield attributing characters, twelve true breed mutants were selected from M4 generation. High values of heritability and genetic advance with high genotypic coefficient of variance (GCV) for plant height, branch number and pod number were considered as favorable attributes for soybean improvement that ensure expected yield. The mutant SBM-18 obtained from 250Gy provided stable yield performance at diversified environments. It provided maximum seed yield of 3056 kg ha-1 with highest number of pods plant-1 (56). The National Seed Board of Bangladesh (NSB) eventually approved SBM-18 and registered it as a new soybean variety named 'Binasoybean-5' for large-scale planting because of its superior stability in various agro-ecological zones and consistent yield performance.
Resumo No programa de melhoramento da soja, a pressão pela seleção contínua para a resposta das características de rendimento criou um gargalo genético para melhorias da soja por meio da técnica de melhoramento por hibridação. Portanto, foi desenvolvida uma variedade de soja de alto rendimento, aplicando técnicas de reprodução por mutação, na Divisão de Melhoramento de Plantas, no Instituto de Agricultura Nuclear de Bangladesh (BINA), em Bangladesh. A cultivar popular BARI Soybean-5, disponível localmente, foi usada como material original e submetida a cinco doses diferentes de raios gama usando Co60. Em relação ao rendimento de sementes e às características de atribuição de rendimento, 12 mutantes genuínos foram selecionados a partir da geração M4. Altos valores de herdabilidade e avanço genético com alto coeficiente de variância genotípico (GCV) para altura da planta, número de ramos e número de vagens foram considerados atributos favoráveis ao melhoramento da soja, garantindo, assim, a produtividade esperada. O mutante SBM-18, obtido a partir de 250Gy, proporcionou desempenho de rendimento estável em ambientes diversificados e produtividade máxima de sementes de 3.056 kg ha-1 com o maior número de vagens planta-1 (56). O Conselho Nacional de Sementes de Bangladesh (NSB) finalmente aprovou o SBM-18 e o registrou como uma nova variedade de soja, chamada 'Binasoybean-5', para plantio em larga escala por causa de sua estabilidade superior em várias zonas agroecológicas e desempenho de rendimento consistente.
Subject(s)
Soybeans/growth & development , Soybeans/genetics , Phenotype , Bangladesh , Plant Breeding , Genotype , MutationABSTRACT
Southern corn leaf blight (SCLB) is one of the most important corn leaf diseases. Appropriate management strategies and the use of resistant cultivars allow disease control. Therefore, knowing the aspects related to the pathogen and the response of hosts makes it possible to design efficient strategies for selecting genotypes resistant to this disease. In this sense, the objective was to carry out the Bipolaris maydis isolate characterization, evaluating the pathogenicity in different popcorn lines and the symptoms generated in the host after inoculation. The isolate characterization consisted of the macromorphological evaluation of the colonies and the micromorphological evaluation of the conidia in the PDA medium. An experiment was carried out in a greenhouse to evaluate the pathogenicity of the isolate, using 20 inbred lines of popcorn in a randomized block design with four replicates. Inoculation was carried out by spraying leaves, with a suspension containing 1.0 x 104 conidia.ml-1 of the CF/UENF 501 isolate of B. maydis. An incidence assessment and three assessments of disease symptom severity were performed, with seven days intervals between evaluations. The morphological characterization data of the isolate were analyzed using descriptive statistics, and for disease severity, the linear regression model was applied the first-degree model. The variance analysis was performed for the linear and angular coefficients obtained for each treatment. When a difference was found, the Scott-Knott clustering algorithm at 5% significance was applied. The isolate had gray-green colonies, a cottony appearance, and an irregular shape. The lines L353, L354, and L624 show more resistance at the beginning and throughout the evaluations. The high virulence of the CF/UENF 501 isolate made it possible to differentiate the lines in terms of disease intensity and the pattern of symptoms presented.
Mancha-de-Bipolaris é uma das mais importantes doenças foliares do milho. Estratégias de manejo adequadas e o uso de cultivar resistente permitem o controle da doença, mas para tanto, conhecer os aspectos associados ao patógeno e a resposta do hospedeiro é necessário para traçar estratégias eficientes para seleção de genótipos resistentes a essa doença. Neste sentido, objetivou-se realizar a caracterização do isolado de Bipolaris maydis avaliando a patogenicidade em diferentes linhagens de milho-pipoca e os sintomas gerados no hospedeiro a partir da inoculação. A caracterização do isolado consistiu na avaliação macromorfológica das colônias e micromofológica dos conídios em meio nutritivo BDA. Para avaliação da patogenicidade do isolado foi conduzido um experimento em casa de vegetação utilizando 20 linhagens endogâmicas de milho-pipoca, com delineamento em blocos casualizados, com quatro repetições. A inoculação foi realizada por meio de pulverização em folhas, com uma suspensão contendo 1,0 x 104 conídios.ml-1 do isolado CF/UENF 501 de B. maydis. Foi realizada uma avaliação de incidência e três avaliações de severidade dos sintomas da doença, com o intervalo de sete dias para cada avaliação. Os dados da caracterização morfológica do isolado foram analisados por meio da estatística descritiva e para severidade da doença foi aplicado o modelo de regressão linear de primeiro grau. Realizou-se a análise de variância para o coeficiente linear e angular obtido para cada tratamento e quando constatada diferença aplicou-se o agrupamento de médias de Scott-knott a 5% de significância. O isolado apresentou colônias com coloração cinza esverdeado, aspecto algodonoso e forma irregular. As linhagens L353 e L354 e L624 estão entre as linhagens que apresentaram maior resistência no inicio e ao longo das avaliações. A elevada virulência do isolado CF/UENF 501 possibilitou diferenciar as linhagens quanto a intensidade da doença, bem como o padrão dos sintomas apresentados.
Subject(s)
Animals , Pest Control , Zea mays , GenotypeABSTRACT
SUMMARY: Cancer is the second leading cause of death in the world and colorectal cancer is the only cancer that has shown a sustained increase in mortality in the last decade. In the search for new chemotherapeutic agents against cancer, extremophilic microorganisms have shown to be a potential source to obtain molecules of natural origin and with selective cytotoxic action towards cancer cells. In this work we analyzed the ability of a collection of Antarctic soil bacteria, isolated on Collins Glacier from the rhizosphere of Deschampsia antarctica Desv plant, to secrete molecules capable of inhibiting cell proliferation of a colorectal cancer tumor line. Our results demonstrated that culture supernatants from the Antarctic bacteria K2I17 and MI12 decreased the viability of LoVo cells, a colorectal adenocarcinoma cell line. Phenotypic and genotypic characterization of the Antarctic bacteria showed that they were taxonomically related and nucleotide identity analysis based on the 16S rRNA gene sequence identified the bacterium K2I17 as a species belonging to the genus Bacillus.
El cáncer es la segunda causa de muerte en el mundo y el cáncer colorrectal es el único que presenta un aumento sostenido de la mortalidad en la última década. En la búsqueda de nuevos agentes quimioterapeúticos contra el cáncer, se ha propuesto a los microorganismos extremófilos como una fuente potencial para obtener moléculas de origen natural y con acción citotóxica selectiva hacia las células cancerígenas. En este trabajo analizamos la capacidad de una colección de bacterias de suelo antártico, aisladas en el glaciar Collins desde rizosfera de la planta de Deschampsia antarctica Desv, de secretar moléculas capaces de inhibir la proliferación celular de una línea tumoral de cáncer colorrectal. Nuestros resultados demostraron que los sobrenadantes de cultivo de las bacterias antárticas K2I17 y MI12 disminuyeron la viabilidad de la línea celular de adenocarcinoma colorrectal LoVo, en un ensayo de reducción metabólica de MTT. La caracterización fenotípica y genotípica de las bacterias antárticas, demostró que estaban relacionadas taxonómicamente y el análisis de la identidad nucleotídica en base a la secuencia del gen ARNr 16S identificó a la bacteria K2I17 como una especie perteneciente al género Bacillus.
Subject(s)
Humans , Soil Microbiology , Bacillus/physiology , Colorectal Neoplasms/drug therapy , Cell Proliferation/drug effects , Phenotype , Bacillus/isolation & purification , Bacillus/genetics , In Vitro Techniques , RNA, Ribosomal, 16S , Adenocarcinoma/drug therapy , Cell Survival/drug effects , Polymerase Chain Reaction , Cell Line, Tumor/drug effects , Genotype , Antarctic RegionsABSTRACT
Abstract Hepatitis C virus (HCV) is the serious global public health burden of liver disease. Approximately 170 million people in the world are infected with (HCV). In Pakistan, where the disease has high occurrence rate. The present study envisages an up-to-date prevalence of HCV and genotypic distribution in the general population of Mardan District, Khyber Pakhtunkhwa (KP), Pakistan. The blood samples from 6,538 individuals including 3,263 males and 3,275 females were analyzed for hepatitis C surface antigen by Immuno-chromatographic test (ICT), Enzyme-linked immunosorbent assay (ELISA), and reverse transcription-polymerase chain reaction (PCR). It was found that 396 (12.13%) out of 3263 individuals contained antibodies in their blood against HCV, while among the different age groups, the highest incidences of HCV antibodies were found in the 31-40 age group (11.01%). The ICT positive samples were further screened by nested PCR to determine the existence of active HCV-RNA. It was identified that 7.11% (3263) of the total population (6538) tested was positive, among which the 461 (14.07%) females possessed antibodies in their blood against HCV. Our data showed total HCV infection in the investigated population was 5.78%. Higher percentage of HCV prevalence was detected in males than females in the age group 31-40 and 41-50. To compare the prevalence of HCV genotypes age-wise in male and female genotype 3a was found most prevalent genotype followed by 1a, 2a and 3b, respectively.
Resumo O vírus da hepatite C (HCV) é o grave problema de saúde pública das doenças hepáticas. Aproximadamente 170 milhões de pessoas no mundo estão infectadas com HCV; no Paquistão, a doença tem alto índice de ocorrência. O presente estudo prevê uma prevalência atualizada do HCV e distribuição genotípica na população geral do distrito de Mardan, Khyber Pakhtunkhwa (KP), Paquistão. As amostras de sangue de 6.538 indivíduos, incluindo 3.263 homens e 3.275 mulheres, foram analisadas para o antígeno de superfície da hepatite C por teste imunocromatográfico (ICT), ensaio imunoenzimático (ELISA) e reação em cadeia da polimerase de transcrição reversa (PCR). Verificou-se que 396 (12,13%) de 3.263 indivíduos continham anticorpos no sangue contra o HCV, enquanto entre as diferentes faixas etárias as maiores incidências de anticorpos anti-HCV foram encontradas na faixa etária de 31 a 40 anos (11,01%). As amostras positivas para ICT foram posteriormente rastreadas por nested PCR para determinar a existência de HCV-RNA ativo. Identificou-se que 7,11% (3.263) do total da população (6.538) testada foram positivos, dentre os quais 461 (14,07%) mulheres possuíam anticorpos no sangue contra o HCV. Nossos dados mostraram que a infecção total pelo HCV na população investigada foi de 5,78%. Maior porcentagem de prevalência de HCV foi detectada em homens do que em mulheres nas faixas etárias de 31-40 e 41-50. Para comparar a prevalência de genótipos de HCV com relação à idade no genótipo masculino e feminino 3a foi encontrado o genótipo mais prevalente seguido por 1a, 2a e 3b, respectivamente.
Subject(s)
Humans , Male , Female , Hepatitis C/epidemiology , Hepacivirus/genetics , Pakistan/epidemiology , Prevalence , GenotypeABSTRACT
Abstract The protozoans include many intracellular human pathogens. Accurate detection of these pathogens is necessary to treat the diseases. In clinical epidemiology, molecular identification of protozoan is considered a more reliable and rapid method for identification than microscopy. Among these protozoans, Cryptosporidium considered being one of the important water-borne zoonotic pathogens and a major cause of a diarrheal disease named cryptosporidiosis in humans, domestic animals, and wild animals. This study was aimed to identify Cryptosporidium in zoo felids (N= 56) belonging to different zoo of China, but accidentlly Colpodella was encountered in the zoo felids sample and phylogenetic data confirmed this unexpected amplification from fecal samples using two-step nested-PCR. Phylogenetic analysis revealed the fact about the specific primers used previously by many researchers and cross-genera amplification. We came to know that genetically sequenced amplicon gives more accurate identification of species. This study suggests more investigation on Colpodella which has been neglected previously but gains the attention of researchers after identified from humans and animals and has been known to correlate with neurological symptoms in patients.
Resumo Os protozoários incluem muitos patógenos humanos intracelulares. A detecção acurada desses patógenos é necessária para tratar as doenças. Na epidemiologia clínica, a identificação molecular de protozoários é considerada o método de identificação mais confiável e rápido do que a microscopia. Entre esses protozoários, o Cryptosporidium é considerado um dos importantes patógenos zoonóticos transmitidos pela água e uma das principais causas de uma doença diarreica denominada criptosporidiose em humanos, animais domésticos e selvagens. Este estudo teve como objetivo identificar Cryptosporidium em zoofelídeos (N = 56) pertencentes a diferentes zoológicos da China, mas acidentalmente Colpodella foi encontrada na amostra de zoofelídeos e os dados filogenéticos confirmaram essa amplificação inesperada de amostras fecais usando nested-PCR em duas etapas. A análise filogenética revelou o fato sobre os primers específicos usados anteriormente por muitos pesquisadores e a amplificação entre gêneros. Ficamos sabendo que o amplicon sequenciado geneticamente fornece uma identificação mais acurada das espécies. Este estudo sugere mais investigação sobre Colpodella, que foi negligenciada anteriormente, mas ganha a atenção dos pesquisadores depois de identificada em humanos e animais e é conhecida por se correlacionar com sintomas neurológicos em pacientes.
Subject(s)
Humans , Animals , Cryptosporidiosis/epidemiology , Cryptosporidium/genetics , Phylogeny , China , Feces , GenotypeABSTRACT
Abstract The present trial explained the effect of alternative production systems on growth, morphometric and carcass traits of four different chicken genotypes. The second generation of two genotypes RNN (Rhode Island Red × Naked Neck) and BNN (Black Australorp × Naked Neck) obtained by two self-crosses (RNN × RNN = RR and BNN × BNN = BB) and two reciprocal crosses (RNN × BNN = RB and BNN × RNN = BR) were evaluated in three alternative production systems (conventional cages, enriched cages, and aviary). At the 6th week of age after sexing, a total of 600 birds, comprising 150 from each crossbred with a total of 300 pullets and 300 cockerels were divided into conventional cages, enriched cages, and aviary systems having 200 birds in each.Birds were organized into 3×4 factorial arrangements under Completely Randomized Design (3 production systems × 4 genotypes × 2 sexes × 25 birds = 600 birds). Regarding genotypes, RB and BR males showed higher (p < 0.01) carcass yield, drumstick weight, breast weight, and thigh weight than BB and RR genotypes. Females of BR genotype showed higher (p < 0.01) breast weight, thigh weight and drumstick weight. As far as production systems are concerned, higher (p < 0.01) liver weight, heart weight, breast weight, intestinal weight, drumstick weight, and thigh weight were observed in the males reared in enriched cages compared with conventional cages and aviary system. Females reared in enriched cages showed higher (p < 0.01) heart weight, breast weight, intestinal weight, drumstick weight, and thigh weight when compared with those reared in conventional cages and aviary. It is concluded that chickens (both sexes) of BR and RB genotypes had better morphological measurements and carcass traits than those of RR and BB genotype chickens. Among alternative production systems, chickens reared in enriched cages had better traits than those of reared in conventional cages and aviary during the growing phase.
Resumo O presente estudo explicou o efeito de sistemas alternativos de produção sobre o crescimento, características morfométricas e carcaças de quatro genótipos de frango diferentes. A segunda geração de dois genótipos RNN (Rhode Island Red × Naked Neck) e BNN (Black Australorp × Naked Neck) obtida por duas autocruzes (RNN × RNN = RR e B ANN × BNN = BB) e duas cruzes recíprocas (RNN × BNN = RB e BNN × RNN = BR) foi avaliada em três sistemas de produção alternativos (gaiolas convencionais, gaiolas enriquecidas e aviário). Na 6ª semana de idade após o sexo, um total de 600 aves, compostas por 150 de cada raça cruzada com um total de 300 pullets e 300 galos, foi dividido em gaiolas convencionais, gaiolas enriquecidas e sistemas aviários com 200 aves em cada. As aves foram organizadas em 3×4 arranjos fatoriais sob projeto completamente randomizado (3 sistemas de produção × 4 genótipos × 2 sexos × 25 aves = 600 aves). Em relação aos genótipos, os machos RB e BR apresentaram maior rendimento de carcaça (p < 0,01), peso da baqueta, peso mamário e peso da coxa do que os genótipos BB e RR. As fêmeas do genótipo BR apresentaram maior (p < 0,01) peso mamário, peso da coxa e peso da baqueta. No que diz respeito aos sistemas de produção, maior (p < 0,01) peso hepático, peso cardíaco, peso mamário, peso intestinal, peso da baqueta e peso da coxa foram observados nos machos criados em gaiolas enriquecidas em comparação com gaiolas convencionais e sistema aviário. As fêmeas criadas em gaiolas enriquecidas apresentaram maior (p < 0,01) peso cardíaco, peso mamário, peso intestinal, peso da baqueta e peso da coxa quando comparadas com as criadas em gaiolas convencionais e aviárias. Conclui-se que as galinhas (ambos os sexos) dos genótipos BR e RB apresentaram melhores medidas morfológicas e traços de carcaça do que os de frangos genótipos RR e BB. Entre os sistemas de produção alternativos, as galinhas criadas em gaiolas enriquecidas tinham características melhores do que as criadas em gaiolas convencionais e aviárias durante a fase de cultivo.
Subject(s)
Animals , Male , Female , Chickens/genetics , Hybridization, Genetic , Rhode Island , GenotypeABSTRACT
Background: The epidemiology of human papillomavirus (HPV) infection and the pattern of HPV genotype distribution are parameters needed to assess the risk of cervical cancer. Oncogenic HPV types are well-known pathogen for lower genital tract neoplasias, representing the primary cause of cancer death in Africa and the second in Cameroon. This study was conducted to identify the various genotypes particularly the high-risk HPV types in normal and abnormal cervical cytology from women in Yaoundé, Cameroon. Methodology: This was a hospital-based, analytical cross-sectional study carried out on 226 symptomatic women wherein cervico-vaginal samples were obtained during gynaecological examination for Pap smears, HPV-DNA and genotype detection with linear array HPV strip, conducted from November 2019 to January 2021. Results: From the 226 women whose cervical samples were collected for Pap smears, 71 (31.4%) had abnormal cytology results while 155 (68.6%) had normal results. The overall HPV prevalence in the study population was 34.1% (77/226). The HPV prevalence in women with abnormal Pap smears was 100% (71/71) and are distributed in following descending order; LSIL (21.1%, 15/71), HSIL (21.1%, 15/71), ASC-US (19.7%, 14/71), ICC (19.7%, 14/71) and others (18.4%, 13/71). HPV-DNA was positive in 6 (3.9%) of the 155 women with normal cytology results, 4 (2.6%) of whom were high-risk HPV. There is statistically significant difference in the HPV prevalence between women with abnormal and normal Pap smear results (OR=3289, 95% CI=182.62-59235, p<0.0001). The frequently identified oncogenic HPV types were type 16 (31.2%, 24/77), type 45 (14.3%, 11/77) and type 18 (10.4%, 8/77). Conclusion: It is evident from our study that symptomatic women with normal Pap smear can have HR-HPV infection and should therefore be screened for HPV and followed up with periodic Pap smears to detect any abnormal change in cervical cytology results, to prevent cervical cancer development. Women should be encouraged to take up cervical screening, through Pap smears, because it is a non-invasive and cost-effective method for early detection of preinvasive lesions
Subject(s)
Humans , Papillomavirus Infections , Social Vulnerability , Therapeutics , Uterine Cervical Neoplasms , Risk , Genotype , Low-Value CareABSTRACT
Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.
Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.
Subject(s)
Humans , Female , Turner Syndrome/genetics , Phenotype , Turner Syndrome/classification , Polymerase Chain Reaction , Cross-Sectional Studies , Retrospective Studies , In Situ Hybridization, Fluorescence , Age of Onset , Cytogenetic Analysis , Chromosomes, Human, X , Ecuador , Genotype , Karyotyping , MonosomyABSTRACT
Introducción: C. albicans es reconocida como la especie más virulenta del género y representa la causa más frecuente de candidiasis en humanos. A nivel taxonómico, C.albicans se clasifica como un complejo de especies estrechamente relacionadas que incluye a C. albicans sensu stricto (s.s), C. dubliniensis y C. africana. Objetivo: identificar las especies del complejo C. albicans aisladas desde distintas muestras de pacientes de la quinta región de Valparaíso. Materiales y método: Se identificaron 103 cepas del complejo C. albicans, aisladas desde muestras superficiales y profundas durante el año 2020. La identificación se realizó en base a morfofisiología y la amplificación del gen HWP1. Resultados: Se identificaron 100 cepas como C. albicans s.s, 2 como C. dubliniensis y 1 como C. africana. Dentro de las cepas identificadas como C. albicans s.s se observaron cuatro patrones de tamaños de fragmentos genéticos. Conclusiones: C. albicans s.s fue la especie más frecuente y en base al genotipo de HPW1 se describen cuatro patrones ( H1 a H4). (AU)
Introduction: C. albicans is recognized as the most virulent species of the genus and represents the major cause of candidiasis in humans. At the taxonomic level, C. albicansis classified as a complex of closely related species that includes C. albicans sensu stricto (s.s), C. dubliniensis, and C. africana. Objective: to identify the species of the C. albicans complex isolated from different samples of patients from the fifth region of Valparaíso. Materials and method: 103 strains of the C. albicans complex were identified, isolated from superficial and deep samples during the year 2020. The identification was carried out based on morphophysiology and the amplification of the HWP1 gene. Results: 100 strains were identified as C. albicans s.s, 2 as C. dubliniensis and 1 as C. africana. Within the strains identified as C. albicans s.s, 4 patterns of fragment sizes were observed. Conclusions: C. albicans s.s was the most frequent species and based on the HPW1 genotype, four patterns are described (H1 to H4).(AU)
Subject(s)
Humans , Candida albicans/isolation & purification , Candida albicans/genetics , Candida albicans/classification , Chile , Prospective Studies , GenotypeABSTRACT
INTRODUCCIÓN: En Chile, el cáncer de cuello uterino (CCU) es la segunda causa de muerte por neoplasias malignas en la mujer. El principal agente causal es el virus papiloma humano (VPH). Comparando con la población general, los o las trabajadoras(es) sexuales (TS) tienen alto riesgo de adquirir VPH. OBJETIVO: Analizar la prevalencia y genotipos del VPH cervical y vaginal en TS que se atienden en un Centro de Salud Sexual de Santiago, Chile. Pacientes y MÉTODO: Se realizó un estudio transversal en 97 mujeres TS, de 19 a 70 años de edad. Se obtuvieron dos muestras por paciente, una de exocérvix y otra de paredes vaginales. El ADN de VPH fue identificado por reacción de polimerasa en cadena (RPC) y su genotipo fue investigado para 32 tipos de VPH. RESULTADOS: La prevalencia de VPH global fue de 45%, observándose portación cervical en 41,2% y vaginal en 36,1%, con una coinfección de 32%. El 63% de las muestras tenía genotipos de alto riesgo. Los VPH de alto riesgo más frecuentes fueron el VPH 66 (12%), VPH 58 (9,3%), seguidos por VPH 16, VPH 59 y VPH 82 con igual frecuencia (8% c/u). Treinta y dos mujeres (43%) fueron infectadas con genotipos múltiples. CONCLUSIÓN: El VPH es una infección frecuente entre las TS. Este es el primer estudio en Chile sobre prevalencia y genotipos de VPH en TS.
BACKGROUND: In Chile, cervical cancer is the second leading cause of death from malignancy in women. The main causal agent of cervical cancer is the human papillomavirus (HPV). Compared with the general population, sex workers (SW) are at increased risk of acquiring HPV. AIM: To analyze the prevalence and genotypes of cervical and vaginal HPV in female SW attending a Sexual Control Centre. METHODS: A cross-sectional study was carried out on 97 women (19-70 years old). Two samples were taken per patient, one from exocervix and the other from vaginal walls. HPV DNA. was identified by polymerase chain reaction (PCR) and genotyping using specific probes for 32 types of HPV. RESULTS: The overall frequency of HPV was 45%, 41.2% in cervical carrier and 36.1% in vaginal carrier, 32% were co-infected, 63% of HPV were high-risk genotypes. The most frequent high-risk HPV was HPV 66 (12%), HPV 58 (9.3%), followed by HPV 16, HPV 59 and HPV 82 with the same frequency (8% each one). Thirty two (43%) of females were infected with multiple genotypes. CONCLUSION: HPV is frequent infection among SW. This is the first study in Chile on the prevalence and genotypes of HPV in sex workers.
Subject(s)
Humans , Female , Adult , Middle Aged , Aged , Young Adult , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/epidemiology , Papillomavirus Infections/epidemiology , Alphapapillomavirus/genetics , Sex Workers , Papillomaviridae/genetics , DNA, Viral/analysis , DNA, Viral/genetics , Chile/epidemiology , Prevalence , Cross-Sectional Studies , GenotypeABSTRACT
Resumen Objetivo: El objetivo de este estudio fue aislar levaduras pertenecientes al complejo de especies Cryptococcus neoformans de los excrementos de paloma de Castilla (Columba livia) recolectados de plazas y parques públicos de El Salvador. Métodos: Las muestras se sembraron en medios de cultivos convencionales y a las colonias confirmadas se les efectuó una tipificación mediante la técnica de restricción enzimática del gen URA5. Resultados: De un total de 66 muestras analizadas, tres estaban positivas por levaduras pertenecientes al complejo de especies Cryptococcus neoformans. El estudio molecular agrupó los aislamientos en los tipos moleculares VNI y VNII; ambos corresponden a la especie Cryptococcus neoformans sensu stricto. Conclusión: En los sitios estudiados, la presencia de esta levadura es muy reducida, probablemente debido a factores ambientales. Se presenta el primer reporte de Cryptococcus neoformans sensu stricto, genotipos VNI y VNII en El Salvador, esta especie es de relevancia en salud pública por el ser el responsable de más del 90% de los casos de criptococosis a nivel mundial.
Abstract Aim: The objective of this study was to isolate yeast that belonged to the Cryptococcus neoformans species complex from the feces of the Feral Pigeon (Columba livia), from public places in El Salvador. Methods: Samples were seeded in conventional culture media and confirmed colonies were typed using the enzyme restriction technique of the URA5 gene. Results: Of a total of 66 samples analyzed, three were positive for yeasts that belonged to the Cryptococcus neoformans species complex. The molecular study grouped the isolates in the molecular types VNI and VNII; both belonging to the species Cryptococcus neoformans sensu stricto. Conclusions: In the studied sites the presence of this yeast is very low, probably due to environmental factors. We present the first report of Cryptococcus neoformans sensu stricto genotypes VNI and VNII in El Salvador. This specie is relevant in public health for being responsible for more than 90% of cases of cryptococcosis worldwide.
Subject(s)
Animals , Columbidae , Cryptococcus neoformans , Genotype , Zoonoses , Public HealthABSTRACT
Human tuberculosis is still a major world health concern. In Uruguay, contrary to the world trend, an increase in cases has been observed since 2006. Although the incidence of MDR-resistant strains is low and no cases of XDR-TB were registered, an increase in the number of patients with severe tuberculosis requiring critical care admission was observed. As a first aim, we performed the analysis of the genetic structure of strains isolated from patients with severe tuberculosis admitted to an intensive care unit. We compared these results with those corresponding to the general population observing a statistically significant increase in the Haarlem genotypes among ICU patients (53.3% vs 34.7%; p;<;0.05). In addition, we investigated the association of clinical outcomes with the genotype observing a major incidence of hepatic dysfunctions among patients infected with the Haarlem strain (p;<;0.05). The cohort presented is one of the largest studied series of critically ill patients with tuberculosis.
La tuberculosis (TB) aún representa un problema mayor de salud pública. En Uruguay, contrariamente a la tendencia mundial, se ha observado un incremento en el número de casos desde 2006. Aunque la incidencia de casos de multidrogorresistencia (MDR) es baja y no se han reportados casos de resistencia a fármacos de primera y segunda línea de tratamiento (XDR), se ha observado un incremento en el número de casos con TB grave, que requieren internación en unidad de terapia intensiva (CTI). Como primer objetivo del presente trabajo, se analizó la estructura genética de cepas de Mycobacterium tuberculosis aisladas de pacientes internados en CTI. Comparamos estos resultados con los obtenidos con cepas circulantes en la comunidad. Observamos un incremento estadísticamente significativo del genotipo Haarlem en los pacientes internados en CTI (53,3 vs. 34,7%; p;<;0,05). Además, investigamos la asociación del desenlace clínico con el genotipo, y encontramos una mayor incidencia de disfunción hepática en los pacientes infectados con la cepa Haarlem (p;<;0,05). La cohorte presentada en este trabajo corresponde a una de las series con mayor número de pacientes con tuberculosis que requirieron internación en CTI.
Subject(s)
Humans , Tuberculosis, Multidrug-Resistant/drug therapy , Extensively Drug-Resistant Tuberculosis/drug therapy , Extensively Drug-Resistant Tuberculosis/epidemiology , Mycobacterium tuberculosis/genetics , Critical Illness , Genotype , Antitubercular AgentsABSTRACT
ABSTRACT Objective: The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress, which is one of the main pathways related to chronic complications of diabetes, including diabetic kidney disease (DKD). Accordingly, some studies have suggested the rs759853 polymorphism in the AKR1B1 gene is associated with DKD; however, findings are still contradictory. The aim was to investigate the association of the rs759853 polymorphism in the AKR1B1 gene and DKD. Materials and methods: The sample comprised 695 patients with type 2 DM (T2DM) and DKD (cases) and 310 patients with T2DM of more than 10 years' duration, but no DKD (controls). The polymorphism was genotyped by real-time PCR. Results: Allelic and genotype frequencies of this polymorphism did not differ significantly between groups. However, the A/A genotype was associated with risk for DKD after adjustment for gender, triglycerides, BMI, presence of hypertension and diabetic retinopathy, and duration of DM, under both recessive (P = 0.048) and additive (P = 0.037) inheritance models. Conclusion: Our data suggest an association between the AKR1B1 rs759853A/A genotype and risk for DKD in Brazilians T2DM patients.
Subject(s)
Humans , Aldehyde Reductase/genetics , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/genetics , Diabetic Nephropathies/complications , Diabetic Nephropathies/genetics , Case-Control Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Alleles , Gene Frequency , GenotypeABSTRACT
OBJECTIVE@#To explore the correlation of cytochrome B-245 alpha chain (CYBA) rs4673 and cholesteryl ester transfer protein (CETP) rs12720922 polymorphisms with the susceptibility of gene-ralized aggressive periodontitis (GAgP).@*METHODS@#The study was a case-control trial. A total of 372 GAgP patients and 133 periodontally healthy controls were recruited. The CYBA rs4673 and CETP rs12720922 polymorphisms were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Logistic regression models were used to analyze the correlation of CYBA rs4673 and CETP rs12720922 variants with the susceptibility of GAgP. The interaction between the two gene polymorphisms to the susceptibility of GAgP was analyzed by the likelihood ratio test. The interaction model adopted was the multiplication model.@*RESULTS@#The mean age of GAgP group and control group was (27.5±5.2) years and (28.8±7.1) years respectively. There was significant difference in age between the two groups (P < 0.05). The gender distribution (male/female) was 152/220 and 53/80 respectively, and there was no significant difference between GAgP group and controls (P>0.05). For CYBA rs4673, the frequency of CT/TT genotype in the GAgP group was significantly higher than that in the controls [18.0% (66/366) vs. 10.6% (14/132), P < 0.05]. After adjusting age and gender, the individuals with CT/TT genotype had a higher risk of GAgP (OR=1.86, 95%CI: 1.01-3.45, P < 0.05), compared with CC genotype. There was no statistically significant difference in distributions of the CETP rs12720922 genotypes (GG, AA/AG) between GAgP patients and healthy controls (P>0.05). A significant interaction between CYBA rs4673 and CETP rs12720922 in the susceptibility to GAgP was observed. The GAgP risk of the individuals with CYBA rs4673 CT/TT and CETP rs12720922 GG genotypes was significantly increased (OR=3.25, 95%CI: 1.36-7.75, P < 0.01), compared with those carrying CC and AA/AG genotypes.@*CONCLUSION@#CYBA rs4673 CT/TT genotype is associated with GAgP susceptibility. There is a significant interaction between CYBA rs4673 CT/TT genotype and CETP rs12720922 GG genotype in the susceptibility of GAgP.
Subject(s)
Adult , Female , Humans , Male , Young Adult , Aggressive Periodontitis/genetics , Case-Control Studies , Cholesterol Ester Transfer Proteins/genetics , Cytochrome b Group , Gene Frequency , Genetic Predisposition to Disease , Genotype , NADPH Oxidases/genetics , Polymorphism, Single NucleotideABSTRACT
Objective: To evaluate the real-world efficacy and safety of sofosbuvir and velpatasvir (SOF/VEL) tablets in the treatment of Chinese patients with chronic HCV infection. Methods: An open-label, single-center, prospective clinical study was conducted in a county in northern China. A total of 299 cases were enrolled. Of these, 161 cases with chronic hepatitis C and 73 cases with compensated cirrhosis received SOF/VEL for 12 weeks. 65 cases with decompensated cirrhosis received SOF/VEL combined with ribavirin for 12 weeks (22 cases) or SOF/VEL for 24 weeks (43 cases). Virological indicators, liver and renal function indexes, and liver stiffness measurement were detected at baseline, the fourth week of treatment, the end of treatment, and the 12-weeks of follow-up. Adverse reactions and laboratory abnormalities were observed during the course of treatment . The primary endpoint was undetectable rate of HCV RNA (SVR12) at 12 weeks of follow-up with the use of modified intention-to-treat (mITT) approach. Measurement data between two groups were compared using t-test. One Way ANOVA was used for comparison between multiple groups. Enumeration data were analyzed by chi-square test or Fisher's exact test. Results: 291 cases had completed treatment. HCV RNA was undetectable after 12 weeks of follow-up, and the SVR12 rate was 97.3% (95% confidence interval: 95.4%-99.3%). Among them, 97.4% of genotype 1b, 96.4% of genotype 2a, and 100% of those with undetected genotype achieved SVR12. The SVR12 rates in patients with chronic hepatitis C, compensated and decompensated liver cirrhosis were 98.1%, 98.6% and 93.8%, respectively. An improvement in alanine aminotransferase, aspartate aminotransferase and other liver biochemical indicators accompanied with virological clearance and reduced liver stiffness measurement was observed in patients with compensated cirrhosis, with statistically significant difference. There was no significant abnormality in renal function before and after treatment. The most common adverse reactions were fatigue, headache, epigastric discomfort and mild diarrhea. The overall adverse reactions were mild. One patient died of decompensated liver cirrhosis combined with massive upper gastrointestinal bleeding, which was unrelated to antiviral treatment. Four patients discontinued treatment prematurely due to adverse events. Relapse was occurred in four cases, and drug-resistance related mutations were detected in three cases. Conclusion: Sofosbuvir and velpatasvir tablets in Chinese HCV-infected patients with different genotypes, different clinical stages or previously treated with pegylated interferon combined with ribavirin resulted in higher SVR12, indicating that the treatment safety profile is good.
Subject(s)
Humans , Antiviral Agents/therapeutic use , Carbamates , Drug Therapy, Combination , Genotype , Hepacivirus/genetics , Hepatitis C/drug therapy , Hepatitis C, Chronic/drug therapy , Heterocyclic Compounds, 4 or More Rings , Liver Cirrhosis/complications , Prospective Studies , RNA , Ribavirin/therapeutic use , Sofosbuvir/adverse effects , Sustained Virologic Response , Treatment OutcomeABSTRACT
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
Subject(s)
Child , Female , Humans , Male , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , China/epidemiology , Cryptorchidism/genetics , Disorders of Sex Development/genetics , Genital Diseases, Male , Genotype , Hypospadias/genetics , Membrane Proteins/genetics , Penis/abnormalities , Phenotype , Retrospective Studies , Steroid 21-Hydroxylase/geneticsABSTRACT
Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.
Subject(s)
Child , Female , Humans , Male , Familial Mediterranean Fever , Fever/etiology , Genotype , Hereditary Autoinflammatory Diseases , Retrospective StudiesABSTRACT
Objective: To assess the incidence of dengue fever and E gene evolution of dengue virus in Guangzhou in 2020 and understand the local epidemiological characteristics of dengue fever and spreading of dengue virus. Methods: The information of dengue fever cases in Guangzhou in 2020 was collected from Notifiable Infectious Disease System of Chinese Center for Disease Control and Prevention Information System. Serum samples from the cases were detected by real-time PCR. The E gene was sequenced and analyzed. Maximum likelihood phylogenetic trees were constructed using software MEGA 5.05. The statistical analysis was conducted using software SPSS 20.0. Results: A total of 33 dengue fever cases were reported in Guangzhou in 2020, including 31 (93.94%) imported cases and 2 (6.06%) local cases. Compared with the data during 2016 to 2019, the number of cases, overall incidence and local incidence all decreased with statistically significant differences (all P<0.05). The imported cases from Southeast Asia constituted 90.32% (28/31) of imported cases. The E gene sequences and the phylogenetic trees of imported and local cases demonstrated close relationship with the virus sequences from Southeast Asian, and they were less homologous with the sequences of dengue virus isolated in Guangzhou in previous years. Conclusions: The incidence of dengue in Guangzhou in 2020 was significantly affected by the imported cases, especially those from Southeast Asian countries. The study result demonstrated that dengue fever was not endemic in Guangzhou and it was caused by imported ones.
Subject(s)
Humans , China/epidemiology , Dengue/epidemiology , Dengue Virus/genetics , Disease Outbreaks , Evolution, Molecular , Genotype , PhylogenyABSTRACT
Objective: To investigate the distribution of HIV-1 genetic subtypes and pretreatment drug resistance (PDR) among men who have sex with men (MSM) from 19 cities of 6 provinces in China. Methods: From April to November 2019, 574 plasma samples of ART-naive HIV-1 infected MSM were collected from 19 cities in Hebei, Shandong, Jiangsu, Zhejiang, Fujian, and Guangdong provinces, total ribonucleic acid (RNA) was extracted and amplified the HIV-1 pol gene region by nested polymerase chain reaction (PCR) after reverse transcription. Then sequences were used to construct a phylogenetic tree to determine genetic subtypes and submitted to the Stanford drug resistance database for drug resistance analysis. Results: A total of 479 samples were successfully amplified by PCR. The HIV-1 genetic subtypes included CRF01_AE, CRF07_BC, B, CRF55_01B, CRF59_01B, CRF65_cpx, CRF103_01B, CRF67_01B, CRF68_01B and unrecognized subtype, which accounted for 43.4%, 36.3%, 6.3%, 5.9%, 0.8%, 0.8%, 0.4%, 0.4%, 0.2% and 5.5%, respectively. The distribution of genetic subtypes among provinces is statistically different (χ2=44.141, P<0.001). The overall PDR rate was 4.6% (22/479), the drug resistance rate of non-nucleoside reverse transcriptase inhibitors, nucleoside reverse transcriptase inhibitors, and protease inhibitors were 3.5% (17/479), 0.8% (4/479) and 0.2% (1/479), respectively. The PDR rate of recent infections was significantly higher than that of long-term infections (χ2=4.634, P=0.031). Conclusions: The HIV-1 genetic subtypes among MSM infected with HIV-1 from 19 cities of 6 provinces in China are diverse, and the distribution of subtypes is different among provinces. The overall PDR rate is low, while the PDR rate of recent infections was significantly higher than that of long-term infections, suggesting the surveillance of PDR in recent infections should be strengthened.