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1.
Midwifery ; 132: 103963, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38457994

RESUMO

BACKGROUND: There are inconsistent results on the Edinburgh Postnatal Depression Scale's (EPDS) factor structure and longitudinal invariance among different cultures. Furthermore, limited relevant studies in Chinese pregnant women exist. PURPOSE: To test the factor structure of the Chinese Mainland EPDS during pregnancy and conduct longitudinal invariance analyses. METHODS: A national multi-centre cohort study was conducted among 1207 pregnant women selected consecutively by convenience sampling from five hospitals in Zhuhai, Taiyuan, Haidian, Changchun, and Shenzhen in China between August 2015 and October 2016. Depression was measured by the EPDS during gestational weeks 10-13, 15-18, 23-25, 30-32 and 36-37, respectively.s RESULTS: Three factors with eigenvalues nearly larger than 1.0 were optimal for the Chinese Mainland EPDS, labelled "anxiety," "anhedonia," and "depression," and contained items 3-5, 1-2, and 6-10, respectively. The confirmatory factor analysis results of standardized root mean square residual (SRMR) = 0.034, root mean square error of approximation (RMSEA) = 0.049, comparative fit index (CFI) = 0.968, Tucker-Lewis index (TLI) = 0.954, and χ2, p < 0.05 indicated good fit. For the longitudinal invariance tests, the configural invariance was met, with the CFI and TLI both higher than 0.90 and the RMSEA lower than 0.08 (CFI = 0.919, TLI = 0.908, and RMSEA = 0.034). The metric-, scalar-, and strict invariances were met. CONCLUSIONS: The three-factor model of the Chinese Mainland EPDS is invariant in pregnancy, suggesting stability and comparability in identifying the women screened positive at different points during pregnancy and making the scale feasible to screen prenatal depression and anxiety simultaneously.


Assuntos
Gestantes , Escalas de Graduação Psiquiátrica , Psicometria , Humanos , Feminino , Gravidez , China , Adulto , Psicometria/métodos , Psicometria/instrumentação , Escalas de Graduação Psiquiátrica/normas , Gestantes/psicologia , Análise Fatorial , Estudos de Coortes , Inquéritos e Questionários , Reprodutibilidade dos Testes , Estudos Longitudinais , Depressão Pós-Parto/diagnóstico , Depressão Pós-Parto/psicologia , Depressão/diagnóstico , Depressão/psicologia , População do Leste Asiático
2.
China CDC Wkly ; 5(36): 797-802, 2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37771624

RESUMO

What is already known about this topic?: The Shanxi Province, located in northern China, holds the highest prevalence of birth defects (BDs) across the country. Following the implementation of a nationwide folic acid supplementation program in 2009, a significant reduction of 53.89% in the prevalence of neural tube defects (NTDs) was observed in Shanxi from 2012 to 2017. However, despite this decrease, the prevalence rate for congenital heart defects (CHDs) in 2017 was over four times that of the 2012 rate. Since 2014, CHDs have emerged as the most predominant BD in Shanxi. What is added by this report?: The present study has identified a marked reduction in the prevalence of both total BDs and NTDs in five counties within Shanxi over the past two decades. As of 2017-2022, NTDs continue to be the most prevalent BDs recorded in this region. Contrarily, there has been a noteworthy increase in the prevalence of CHDs, ranking them among the top five most common BDs in the region between 2017 and 2022, though their rate remains below the national average. Additionally, the proportion of external anomalies remains high. Nevertheless, due to constrained access to primary healthcare services and diagnostic facilities, the early detection rate for internal anomalies, particularly CHDs, may be underestimated in the region. What are the implications for public health practice?: The results of this study underscore the necessity for augmented efforts in promoting folic acid supplementation as a preventive measure for NTDs. Moreover, improvements in the distribution of medical resources within this region are recommended, particularly the introduction and enforcement of local training programs aimed at enhancing CHD screening and diagnostic processes in these respective counties.

3.
Am J Reprod Immunol ; 90(3): e13758, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37641376

RESUMO

BACKGROUND/OBJECTIVE: Early pregnancy loss (EPL) is a common adverse pregnancy outcome with an incidence of approximately 10-30%. There are many factors that cause EPL, among which the lack of proliferation and invasive properties of trophoblast cells can lead to embryonic development. Therefore, in this study, the molecular biology of trophoblast cells was investigated. METHODS: Placental villous tissues from EPL patients were collected to explore ELF1 and PRR11 gene expression. The proliferation and migration of trophoblast cells were assessed by MTT, crystalline violet staining, and traswell assays, respectively. Western blotting and RT-qPCR were performed to investigate the relationship between ELF1, PRR11, and ARP2/3. F-actin polymerization and FAK activation were evaluated by immunofluorescence and western blotting. Ultimately, ELF1/PRR11/ARP2/3 expression was verified in the EPL mice model RESULTS: ELF1 and PRR11 were lowly expressed in placental villous tissues from EPL. The overexpression of ELF1 and PRR11 promoted proliferation and migration of trophoblast cells. Moreover, while ELF1 bound to the PRR11 promoter and promoted transcriptional activation. Finally, ELF1/PRR11/ARP2/3 showed low expression in the placental tissue of EPL mice. CONCLUSION: Our study suggested that PRR11 promoted the motility of trophoblast cells by binding to the ARP2/3 complex to promote F-actin polymerization and FAK activation. In addition, ELF1 bound to the initiation site of PRR11 to promote its transcription. ELF1/PRR11/ARP2/3 may play an important role in EPL.


Assuntos
Actinas , Placenta , Feminino , Animais , Camundongos , Gravidez , Trofoblastos , Western Blotting , Proliferação de Células
4.
Biotechnol Genet Eng Rev ; : 1-11, 2023 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-36606759

RESUMO

OBJECTIVE: To investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) gene-specific methylation and recurrent spontaneous abortion (RSA). METHODS: A total of 50 RSA patients who visited our hospital were recruited in the study group; 50 multiparous women who underwent physical examinations during the same period were enrolled in the control group. The levels of homocysteine, folic acid, and vitamin B12 and their MTHFR gene polymorphism and specific methylation were measured in both groups. The Logistic regression equation was used to analyze the correlation between MTHFR gene-specific methylation and RSA. RESULTS: The methylated allele MM was not found in the control group, and the frequency in the study group was 1.19%. The frequency of the MU genotype in the study group 32.93% was higher than that in the control group 12.45%. The frequency of methylated alleles of CC and CT genotypes carrying MTHFR C677T polymorphism in the study group was higher than that in the control group (P < 0.05). There was no significant difference in the TT genotype between the two groups (P > 0.05). Multivariate Logistic regression analysis exhibited that patients with methylated alleles of CC genotype had a risk of RSA increased by 1.167 times, and the risk increased by 2.500 times in patients with methylated alleles of CT genotype (P < 0.05). 83.33% of RSA patients carrying methylated alleles affected hyperhomocysteinemia. In patients with elevated homocysteine levels, the risk of RSA caused by methylated allele was significantly increased by 7.321 times. CONCLUSION: MTHFR gene-specific methylation can significantly increase the risk of RSA.

5.
Cancer Gene Ther ; 30(4): 596-607, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36494581

RESUMO

Our previous study confirmed that miR-219-5p inhibits the progression of ovarian cancer (OC) by targeting high mobility group AT-hook 2 (HMGA2), while the role of miR-219-5p on the chemoresistance of OC is unclear. HMGA2 and miR-219-5p expression in OC tumors and various types of OC cells were determined by reverse transcription-quantitative PCR (RT-qPCR) and western blotting. The miRNA profiles in A2780 and cisplatin-resistant A2780 cells were investigated via bulk miRNA sequencing, and the interactions of miR-219-5p and HMGA2 were determined by luciferase reporter activity assay. Cell function was verified through Cell Counting Kit-8, invasion assay, wound-healing, and TUNEL assays. HMGA2 level is highly expressed in cisplatin-resistant OC cell lines compared to normal OC cells, while the expression trend of miR-219-5p is the opposite. In addition, we found that miR-219-5p is one of the miRNAs that have the most significant reduction in levels in the cisplatin-resistant A2780/DDP cell line compared to A2780 cells. Then, we reveal that miR-219-5p directly targets HMGA2 in cisplatin-resistant OC cells, and upregulation of miR-219-5p significantly reduces the resistance of OC cells to cisplatin both in vitro and in vivo. Finally, our results suggest that Wnt/ß-catenin signaling and autophagy pathway is involved in the role of miR-219-5p/HMGA2 on resistance of OC cells to cisplatin via gain-of-function experiments. Collectively, the present study shows that miR-219-5p decreases the resistance of OC cells to cisplatin via Wnt/ß-catenin signaling and autophagy by regulating HMGA2, which provides a feasible solution for the resistance of OC to chemotherapy.


Assuntos
MicroRNAs , Neoplasias Ovarianas , Humanos , Feminino , Cisplatino/farmacologia , Cisplatino/uso terapêutico , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , beta Catenina/genética , beta Catenina/metabolismo , Linhagem Celular Tumoral , Resistencia a Medicamentos Antineoplásicos/genética , MicroRNAs/metabolismo , Autofagia/genética , Proliferação de Células/genética , Regulação Neoplásica da Expressão Gênica
6.
Oncol Rep ; 48(4)2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36082822

RESUMO

The protein disulfide isomerase (PDI) gene family plays important roles in the maintenance of several cellular functions. Previous studies have showed that protein disulfide isomerase family A member 4 (PDIA4) is aberrantly expressed in several types of cancer, and correlates with prognosis of patients. However, the role of PDIA4 in cervical cancer remains unclear. In the present study, the expression pattern of PDIA4 from both public database and immunohistochemical analysis in cervical samples was analyzed. Cell Counting Kit­8 and Transwell assays were performed to determine the effect of PDIA4 on cervical cancer cell proliferation and migration. Gene set enrichment analysis (GSEA) was used to provide the associated enriched pathways of PDIA4 in regulating cervical tumorigenesis. It was observed that mRNA expression and protein level of PDIA4 were upregulated in cervical cancer tissues. High expression of PDIA4 was significantly associated with poor overall survival (P=0.0095) and relapse­free survival (P=0.0019) in The Cancer Genome Atlas cohort. Knockdown of PDIA4 inhibited cervical cancer cell proliferation and migration. Moreover, PDIA4 affected the expression of proliferation­related molecules (cyclin D1 and PCNA) and migration­related molecules (E­cadherin and Vimentin). Additionally, GSEA revealed that PDIA4 was significantly associated with gene signatures involving glycan biosynthesis, glycosaminoglycan degradation and protein export. In conclusion, the present findings highlighted the importance of PDIA4 in cervical oncogenesis, and suggested that targeting PDIA4 may be a potential therapeutic application for cervical cancer.


Assuntos
Isomerases de Dissulfetos de Proteínas , Neoplasias do Colo do Útero , Movimento Celular/genética , Proliferação de Células/genética , Feminino , Humanos , Recidiva Local de Neoplasia , Prognóstico , Isomerases de Dissulfetos de Proteínas/genética , Isomerases de Dissulfetos de Proteínas/metabolismo , Taxa de Sobrevida , Neoplasias do Colo do Útero/metabolismo
7.
Arch Med Sci ; 18(2): 523-534, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35316908

RESUMO

Introduction: Cervical cancer is one of the most common malignant tumors in women, which seriously affects women's health, especially in developing countries. This study aims to investigate novel molecular markers for poor prognosis of cervical cancer to achieve correct guidance of clinical treatment, accurate assessment of prognosis, and provide a new basis for the choice of reasonable treatment options for cervical cancer patients. Material and methods: QRT-PCR was employed to investigate the expression of lncRNA TP73-AS1 in cervical cancer tissues and cell lines. COX multivariate analysis showed the relationship between TP73-AS1 expression and clinicopathological features of patients with cervical cancer. Colony formation and MTT assay detected the effect of TP73-AS1 on proliferation of cervical cancer cells. The effect of TP73-AS1 on migration and invasion of cervical cancer cells was determined by the wound-healing assay and transwell assay. Western blot was performed to assess the expression of EMT markers. Results: This study showed that lncRNA TP73-AS1 was up-regulated in cervical cancer tissues and cell lines (p < 0.001), and high expression of TP73-AS1 could be considered as an independent prognostic factor (p < 0.05). Moreover, lncRNA TP73-AS1 promotes cervical cancer cell migration and invasion, and knockdown of TP73-AS1 inhibits the growth of cervical cancer cells (p < 0.001). Conclusions: Our results indicated that lncRNA TP73-AS1 was up-regulated in cervical cancer tissues and cell lines, predicting poor prognosis of cervical cancer and regulating cell proliferation and migration.

8.
Cytogenet Genome Res ; 161(3-4): 120-131, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33975305

RESUMO

In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both p < 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all p > 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.


Assuntos
Aborto Espontâneo/genética , Aneuploidia , Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Análise Citogenética/métodos , Primeiro Trimestre da Gravidez/genética , Adulto , Feminino , Fertilização/genética , Humanos , Idade Materna , Monossomia , Gravidez , Estudos Retrospectivos , Triploidia , Trissomia , Adulto Jovem
9.
Matern Child Nutr ; 15(4): e12828, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30970178

RESUMO

Folate insufficiency during the periconceptional period increases the risk of neural tube defects (NTDs) in offspring, and folic acid supplementation substantially reduces the risk. Widespread large-scale folic acid supplementation (0.4-mg folic acid tablet) has been adopted as a main strategy to prevent NTDs in China since 2009. We examined folate concentrations in plasma and red blood cells (RBCs) of pregnant women and the factors associated with blood folate concentrations in a population with a high prevalence of NTDs in northern China. A cross-sectional survey was conducted in 2014, and 1,107 pregnant women were recruited from 11 county or city maternal and child health centres across Shanxi province. Microbiological assays were used to determine folate concentrations. Factors associated with blood folate insufficiency were identified. The median (25th and 75th percentiles) folate concentrations were 28.4 (17.6, 45.2) nmol L-1 and 1,001.2 (658.7, 1,402.5) nmol L-1 in plasma and RBCs, respectively. According to the proposed RBC (906 nmol L-1 ) concentrations for optimal NTD prevention, 42.4% participants had RBC folate insufficiency. Rural women had a higher proportion of folate insufficiency than urban women. Folic acid supplementation was the only factor associated with RBC folate insufficiency. A large proportion of women had RBC folate concentrations that are not optimal for the prevention of NTDs despite free access to folic acid supplements. Actions that aim to improve folic acid supplementation compliance are needed to reach the full potential of the nationwide folic acid supplementation programme in terms of NTD prevention.


Assuntos
Deficiências Nutricionais , Ácido Fólico/sangue , Ácido Fólico/uso terapêutico , Complicações na Gravidez , Adulto , China/epidemiologia , Estudos Transversais , Deficiências Nutricionais/tratamento farmacológico , Deficiências Nutricionais/prevenção & controle , Suplementos Nutricionais , Feminino , Promoção da Saúde , Humanos , Gravidez , Complicações na Gravidez/tratamento farmacológico , Complicações na Gravidez/prevenção & controle , Adulto Jovem
10.
Biol Res ; 51(1): 50, 2018 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-30474570

RESUMO

BACKGROUND: Accumulating studies have demonstrated that high-mobility group A2 (HMGA2), an oncofetal protein, plays a role in tumor development and progression. However, the molecular role of HMGA2 in ovarian carcinoma is yet to be established. MicroRNAs (miRNAs), a group of small noncoding RNAs, negatively regulate gene expression and their dysregulation has been implicated in tumorigenesis. The aim of this study was to investigate the potential involvement of a specific miRNA, miR-219-5p, in HMGA2-induced ovarian cancer. METHODS: The ovarian cancer cell line, SKOV3, was employed, and miR-219-5p and HMGA2 overexpression vectors constructed. The CCK-8 kit was used to determine cell proliferation and the Transwell® assay used to measure cell invasion and migration. RT-PCR and western blot analyses were applied to analyze the expression of miR-219-5p and HMGA2, and the luciferase reporter assay used to examine the interactions between miR-219-5p and HMGA2. Nude mice were employed to characterize in vivo tumor growth regulation. RESULTS: Expression of miR-219-5p led to suppression of proliferation, invasion and migration of the ovarian cancer cell line, SKOV3, by targeting HMGA2. The inhibitory effects of miR-219-5p were reversed upon overexpression of HMGA2. Data from the luciferase reporter assay showed that miR-219-5p downregulates HMGA2 via direct integration with its 3'-UTR. Consistent with in vitro findings, expression of miR-219-5p led to significant inhibition of tumor growth in vivo. CONCLUSION: Our results collectively suggest that miR-219-5p inhibits tumor growth and metastasis by targeting HMGA2.


Assuntos
Regulação Neoplásica da Expressão Gênica/genética , Proteína HMGA2/metabolismo , MicroRNAs/fisiologia , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Animais , Linhagem Celular Tumoral , Movimento Celular/genética , Proliferação de Células/genética , Feminino , Proteína HMGA2/genética , Humanos , Camundongos , Invasividade Neoplásica , Metástase Neoplásica , Neoplasias Ovarianas/genética
11.
Sci Rep ; 8(1): 2319, 2018 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-29396525

RESUMO

Genomic loci related with resistance to gall-inducing insects have not been identified in any plants. Here, association mapping was used to identify molecular markers for resistance to the gall wasp Leptocybe invasa in two Eucalyptus species. A total of 86 simple sequence repeats (SSR) markers were screened out from 839 SSRs and used for association mapping in E. grandis. By applying the mixed linear model, seven markers were identified to be associated significantly (P ≤ 0.05) with the gall wasp resistance in E. grandis, including two validated with a correction of permutation test (P ≤ 0.008). The proportion of the variance in resistance explained by a significant marker ranged from 3.3% to 37.8%. Four out of the seven significant associations in E. grandis were verified and also validated (P ≤ 0.073 in a permutation test) in E. tereticornis, with the variation explained ranging from 24.3% to 48.5%. Favourable alleles with positive effect were also mined from the significant markers in both species. These results provide insight into the genetic control of gall wasp resistance in plants and have great potential for marker-assisted selection for resistance to L. invasa in the important tree genus Eucalyptus.


Assuntos
Resistência à Doença , Eucalyptus/genética , Eucalyptus/parasitologia , Loci Gênicos , Insetos/crescimento & desenvolvimento , Animais , Mapeamento Cromossômico , Estudos de Associação Genética , Marcadores Genéticos , Sequências Repetitivas de Ácido Nucleico
12.
Biol. Res ; 51: 50, 2018. graf
Artigo em Inglês | LILACS | ID: biblio-1011394

RESUMO

BACKGROUND: Accumulating studies have demonstrated that high-mobility group A2 (HMGA2), an oncofetal protein, plays a role in tumor development and progression. However, the molecular role of HMGA2 in ovarian carcinoma is yet to be established. MicroRNAs (miRNAs), a group of small noncoding RNAs, negatively regulate gene expression and their dysregulation has been implicated in tumorigenesis. The aim of this study was to investigate the potential involvement of a specific miRNA, miR-219-5p, in HMGA2-induced ovarian cancer. METHODS: The ovarian cancer cell line, SKOV3, was employed, and miR-219-5p and HMGA2 overexpression vectors constructed. The CCK-8 kit was used to determine cell proliferation and the Transwell® assay used to measure cell invasion and migration. RT-PCR and western blot analyses were applied to analyze the expression of miR-219-5p and HMGA2, and the luciferase reporter assay used to examine the interactions between miR-219-5p and HMGA2. Nude mice were employed to characterize in vivo tumor growth regulation. RESULTS: Expression of miR-219-5p led to suppression of proliferation, invasion and migration of the ovarian cancer cell line, SKOV3, by targeting HMGA2. The inhibitory effects of miR-219-5p were reversed upon overexpression of HMGA2. Data from the luciferase reporter assay showed that miR-219-5p downregulates HMGA2 via direct integration with its 3'-UTR. Consistent with in vitro findings, expression of miR-219-5p led to significant inhibition of tumor growth in vivo. CONCLUSION: Our results collectively suggest that miR-219-5p inhibits tumor growth and metastasis by targeting HMGA2.


Assuntos
Humanos , Animais , Feminino , Camundongos , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Regulação Neoplásica da Expressão Gênica/genética , Proteína HMGA2/metabolismo , MicroRNAs/fisiologia , Neoplasias Ovarianas/genética , Movimento Celular/genética , Proteína HMGA2/genética , Linhagem Celular Tumoral , Proliferação de Células/genética , Invasividade Neoplásica , Metástase Neoplásica
13.
Sci Rep ; 6: 34941, 2016 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-27748400

RESUMO

Identification of loci or genes under natural selection is important for both understanding the genetic basis of local adaptation and practical applications, and genome scans provide a powerful means for such identification purposes. In this study, genome-wide simple sequence repeats markers (SSRs) were used to scan for molecular footprints of divergent selection in Eucalyptus grandis, a hardwood species occurring widely in costal areas from 32° S to 16° S in Australia. High population diversity levels and weak population structure were detected with putatively neutral genomic SSRs. Using three FST outlier detection methods, a total of 58 outlying SSRs were collectively identified as loci under divergent selection against three non-correlated climatic variables, namely, mean annual temperature, isothermality and annual precipitation. Using a spatial analysis method, nine significant associations were revealed between FST outlier allele frequencies and climatic variables, involving seven alleles from five SSR loci. Of the five significant SSRs, two (EUCeSSR1044 and Embra394) contained alleles of putative genes with known functional importance for response to climatic factors. Our study presents critical information on the population diversity and structure of the important woody species E. grandis and provides insight into the adaptive responses of perennial trees to climatic variations.


Assuntos
Eucalyptus/genética , Genética Populacional , Genoma de Planta , Repetições de Microssatélites , Alelos , Austrália , Biodiversidade , Clima , Frequência do Gene , Variação Genética , Genótipo , Geografia , Fenótipo , Polimorfismo Genético , Análise de Regressão , Seleção Genética
14.
BMC Bioinformatics ; 16: 343, 2015 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-26498606

RESUMO

BACKGROUND: Amplicon re-sequencing based on the automated Sanger method remains popular for detection of single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (InDels) for a spectrum of genetics applications. However, existing software tools for detecting intra-individual SNPs and InDels in direct amplicon sequencing of diploid samples are insufficient in analyzing single traces and their accuracy is still limited. RESULTS: We developed a novel computation tool, named DiSNPindel, to improve the detection of intra-individual SNPs and InDels in direct amplicon sequencing of a diploid. Neither reference sequence nor additional sample was required. Using two real datasets, we demonstrated the usefulness of DiSNPindel in its ability to improve largely the true SNP and InDel discovery rates and reduce largely the missed and false positive rates as compared with existing detection methods. CONCLUSIONS: The software DiSNPindel presented here provides an efficient tool for intra-individual SNP and InDel detection in diploid amplicon sequencing. It will also be useful for identification of DNA variations in expressed sequence tag (EST) re-sequencing.


Assuntos
Polimorfismo de Nucleotídeo Único , Software , DNA/química , DNA/metabolismo , Diploide , Etiquetas de Sequências Expressas , Mutação INDEL , Análise de Sequência de DNA
15.
J Obstet Gynaecol Res ; 41(7): 1087-92, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25809118

RESUMO

AIM: The correlation between interleukin-6 (IL-6) gene polymorphism and polycystic ovary syndrome (PCOS) has been reported, but the conclusions are controversial. The present study was aimed to evaluate the association between IL-6 -174 G/C polymorphism and susceptibility of PCOS by meta-analysis. MATERIAL AND METHODS: A systematic search on Medline, Embase, CNKI, Wanfang Data and VIP databases containing Chinese and English studies was conducted electronically using specific eligibility criteria. Meta-analysis was performed using Review Manager 5.2 software after Hardy-Weinberg equilibrium test. Effect sizes of odds ratio and 95% confidence interval (CI) were calculated and combined appropriately. To verify the reliability of the results, subgroup analyses and sensitivity analyses were performed. RESULTS: Four selected studies containing 351 cases and 464 control participants were included. The pooled odds ratio between IL-6 -174 G/C polymorphism and susceptibility of PCOS under allele (C/G), dominant (CC+GC/GG) and recessive (CC/GG+GC) models were 0.63 (95%CI, 0.41-0.96), 0.53 (95%CI, 0.26-1.08) and 0.67 (95%CI, 0.39-1.16), respectively. The result under allele model was unstable in sensitivity analysis. Subgroup analysis showed that the correlation between IL-6 -174 G/C polymorphism and susceptibility of PCOS was not statistically significant in the studies that conformed to the Hardy-Weinberg equilibrium. CONCLUSION: IL-6 -174 G/C polymorphism may be not related to susceptibility of PCOS. Nevertheless, further studies with large samples and studies considering other single-nucleotide polymorphisms of the IL-6 gene are needed to confirm our findings.


Assuntos
Interleucina-6/genética , Síndrome do Ovário Policístico/genética , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Adulto Jovem
16.
Wei Sheng Yan Jiu ; 38(5): 579-81, 2009 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-19877520

RESUMO

OBJECTIVE: to discuss the impact of different traffic crossroad exhaust pollution on the immune function of school-age children. METHODS: A school in the heavy traffic polluted area and B school in the less traffic polluted area were selected. Total 142 students from five to six grades in both areas were sampled. The level of peripheral blood cells (WBC, lymphocytes, neutral cells, red blood cells, platelets) and the T lymphocyte subpopulations (the percentages of CD3+, CD4+, CD8+ and the ratio of CD4+/CD8+), saliva lysozyme contents and immunoglobulin content were determined. RESULTS: Except for neutral cells, the peripheral blood cells level (WBC, lymphocytes, red blood cells, platelets) of children in the A school were higher than those in the B school. The contents of saliva lysozyme, immunoglobulin (IgG), T lymphocyte subpopulations (the percentages of CD3+, CD4+ and the ratio of CD4+/CD8+) in the A school were lower than those in the B school (P < 0.05). CONCLUSION: Exhaust pollution of different traffic crossroads could inhibit nonspecific immunity and cell immunity, and impact the level of blood cells and humoral immunity.


Assuntos
Poluentes Atmosféricos/efeitos adversos , Exposição Ambiental/efeitos adversos , Imunoglobulinas/sangue , Subpopulações de Linfócitos T/imunologia , Emissões de Veículos/análise , Criança , China , Cidades , Feminino , Humanos , Masculino , Muramidase/metabolismo , Saliva/metabolismo , Estudos de Amostragem
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