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1.
RECIIS (Online) ; 13(4): 952-958, out.-dez. 2019. ilus
Artigo em Português | LILACS | ID: biblio-1047681

RESUMO

Análise do documentário Saúde! Velho Chico, de Stella Oswaldo Cruz Penido e Eduardo Vilela Thielen, tomando-o como registro, a um só tempo, dos padrões históricos de interação com o Rio São Francisco e de alternativas capazes de construir uma relação mais sinérgica e sustentável com as águas fluviais. O filme contrapõe as metanarrativas do desenvolvimento ­ legitimadoras de intervenções como hidrelétricas, barragens, projetos de irrigação para a agricultura industrial e o controverso projeto de sua transposição ­ a formas de relação estabelecidas pelas diversas populações ribeirinhas, das quais a vida, o corpo e as culturas são construídos em estreita simbiose com o rio.


This review analyzes the documentary Saúde! Velho Chico, scripted and directed by Stella Oswaldo Cruz Penido and Eduardo Vilela Thielen, taking it as a record of the historical patterns of interaction with the Rio São Francisco (São Francisco River) and at the same time of alternatives based on the building of more synergistic and sustainable relationships with river waters. In this sense, the film contrasts the metanarratives of development ­ which legitimize interventions such as hydroelectric dams, irrigation projects for industrial agriculture as well as the controversial transfer of the São Francisco River project ­ with relationships established by the riverside populations, who have a close symbiosis between their life, body and cultures and the river.


Análisis del documental Saúde! Velho Chico, con guión y dirección de Stella Oswaldo Cruz Penido y Eduardo Vilela Thielen, entendido como un registro, al mismo tiempo, de los patrones históricos de interacción con el Rio São Francisco (río San Francisco) y de alternativas capaces de construir una relación más sinérgica y sostenible con las aguas de los ríos. La película contrasta las metanarrativas del desarrollo ­ que legitiman intervenciones como represas hidroeléctricas, proyectos de riego para la agricultura industrial y el controvertido proyecto de transposición del río ­ con formas de relación establecidas por las diversas poblaciones ribereñas, que tienen la vida, el cuerpo y las culturas en estrecha simbiosis con el río.


Assuntos
Humanos , Tecnologia, Indústria e Agricultura , Documentários Cinematográficos , Rios , Meio Ambiente , Agricultura Sustentável , População , Brasil , Saúde Ambiental , Saúde , Ecossistema , Recursos Naturais , Conservação dos Recursos Hídricos
2.
Acta Biochim Pol ; 66(3): 329-336, 2019 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-31531420

RESUMO

Several studies employed the genome-wide association (GWA) analysis of single-nucleotide polymorphisms (SNPs) to identify susceptibility regions in colorectal cancer (CRC). However, the functional studies exploring the role of associating SNPs with cancer biology are limited. Herein, using chromatin immunoprecipitation assay (ChIP), reporter assay and chromosome conformation capture sequencing (3C-Seq) augmented with publically available genomic and epigenomic databases we aimed to define the function of rs6702619/1p21.2 region associated with CRC in the Polish population. Using ChIP we confirmed that rs6702619 region is occupied by a CTCF, a master regulator of long-range genomic interactions, and is decorated with enhancer-like histone modifications. The enhancer blocking assay revealed that rs6702619 region acts as an insulator with activity dependent on the SNP genotype. Finally, a 3C-Seq survey indicated more than a hundred loci in the rs6702619 locus interactome, including GNAS gene that is frequently amplified in CRC. Taken together, we showed that the CRC-associated rs6702619 region has in vitro and in vivo properties of an insulator that demonstrates long-range physical interactions with CRC-relevant loci.


Assuntos
Neoplasias Colorretais/genética , Penetrância , Polimorfismo de Nucleotídeo Único/genética , População/genética , Sítios de Ligação , Fator de Ligação a CCCTC/química , Fator de Ligação a CCCTC/genética , Carcinogênese/genética , Cromograninas/genética , Cromossomos Humanos Par 1/genética , Neoplasias Colorretais/patologia , Epigênese Genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Loci Gênicos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Células HCT116 , Células HeLa , Humanos , Polônia , Regiões Promotoras Genéticas , Risco
3.
Science ; 365(6457)2019 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-31488661

RESUMO

By sequencing 523 ancient humans, we show that the primary source of ancestry in modern South Asians is a prehistoric genetic gradient between people related to early hunter-gatherers of Iran and Southeast Asia. After the Indus Valley Civilization's decline, its people mixed with individuals in the southeast to form one of the two main ancestral populations of South Asia, whose direct descendants live in southern India. Simultaneously, they mixed with descendants of Steppe pastoralists who, starting around 4000 years ago, spread via Central Asia to form the other main ancestral population. The Steppe ancestry in South Asia has the same profile as that in Bronze Age Eastern Europe, tracking a movement of people that affected both regions and that likely spread the distinctive features shared between Indo-Iranian and Balto-Slavic languages.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Fazendas/história , Migração Humana/história , População/genética , Ásia Central , Ásia Sudeste , Fluxo Gênico , História Antiga , Humanos , Irã (Geográfico) , Análise de Sequência de DNA
4.
BMC Oral Health ; 19(1): 184, 2019 08 14.
Artigo em Inglês | MEDLINE | ID: mdl-31412847

RESUMO

BACKGROUND: There is a paucity of population-based surveys on oral health conditions in Ecuador. Thus, the aim of this study was to conduct an epidemiological survey with a representative sample of children aged 12 years from public schools of Quito, Ecuador. The aim of this initial report was to describe the methodology used in the survey, as well to present results regarding calibration procedures and prevalence of oral-health related outcomes. METHODS: We invited 33 public schools' coordinators from the urban area of Quito, and 1100 children (12 years old) to take part in this study. Six trained and calibrated examiners conducted clinical examinations using oral mirrors and ball-ended probes to assess: dental caries, traumatic dental injuries, malocclusion, gingival bleeding, presence of calculus and fluorosis. Children also responded a questionnaire on Oral Health-Related Quality of Life (OHRQoL). Individual sociodemographic data was collected through a questionnaire sent to parents. Moreover, some contextual data on school environment (infrastructure conditions, promotion of health practices and negative episodes) were also evaluated. Prevalence values, crude and weighted by sampling weights, and 95% confidence intervals (95%CI) were calculated. RESULTS: Nine hundred and ninety-eight children from 31 schools were examined from March to May 2017. The adjusted prevalence values (95%CI) for the six outcomes evaluated were: dental caries = 60.3% (55.3 to 65.0%); traumatic dental injuries = 20.7% (17.2 to 24.8%); dental fluorosis = 63.7% (58.5 to 68.5%); gingival bleeding = 92.0% (87.1 to 95.2%); presence of calculus = 69.9 (60.5 to 77.9%); and malocclusion = 25.8% (21.8 to 30.3%). Adjusted mean of number of decayed, missed or filled permanent teeth (DMF-T) was 1.61 (1.37 to 1.84). Results on OHRQoL and other contextual variables will be reported in other articles. CONCLUSION: The prevalence of the majority of oral health problems in 12-year-old children from public schools in Quito-Ecuador was compatible with those observed in other similar cities. However, periodontal health and fluorosis seem to be highly prevalent in children from Quito.


Assuntos
Cárie Dentária , Saúde Bucal , Criança , Estudos Transversais , Índice CPO , Cárie Dentária/epidemiologia , Equador/epidemiologia , Humanos , População , Prevalência , Qualidade de Vida , Inquéritos e Questionários
5.
Environ Monit Assess ; 191(9): 537, 2019 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-31377885

RESUMO

Copper contamination is increasing and can be a threat to human health. This review tries to summarize copper levels measured in humans in Iran. Persian databases such as SID, Magiran, and IranMedex and English databases such as Scopus, Pubmed, Science Direct, and the Google Scholar were searched using both English and Persian keywords. Twenty-six articles that measured the concentration of copper in human samples in Iran were included. According to the results of the reviewed studies, copper levels in some Iranian populations were higher than normal levels. These populations included pregnant women with preeclampsia, patients with oral cancer, patients with Giardiasis infection, patients with Parkinson's, children under the age of 12 years with ß-thalassemia major, pregnant women in the third trimester, and type 2 diabetic patients. Copper levels were less than normal, in patients with tuberculosis after treatment and post-menopausal women with osteopenia and osteoporosis. Also, copper concentrations in patients with tuberculosis, cutaneous leishmaniasis, brucellosis, and molybdenum unit workers were higher, and copper concentrations in patients with Pemphigus vulgaris and coronary artery disease were less than those of their controls, but all were in the normal range (70-140 µg/dL). The amount of copper adsorption in various teeth was different. High levels of copper have been reported in some Iranian populations and this can be a threat to human health. Monitoring copper levels in some Iranian populations is necessary.


Assuntos
Cobre/sangue , Criança , Bases de Dados Factuais , Exposição Ambiental , Feminino , Humanos , Irã (Geográfico) , Exposição Ocupacional , Pacientes , População , Gravidez
6.
Genetica ; 147(3-4): 327-335, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31342301

RESUMO

The Sichuan snub-nosed monkey (Rhinopithecus roxellana) is an endangered species endemic to China, where the smallest population resides in Shennongjia National Park, Hubei Province. In this study, the genetic diversity of the Sichuan snub-nosed monkeys from two areas, Qianjiaping (QJP) and Dalongtan (DLT) in Shennongjia National Park was evaluated using single nucleotide polymorphisms (SNPs) data derived from restriction site-associated DNA sequencing (RAD-seq). A total of 41,260 SNP loci were found in 29 Sichuan snub-nosed monkey individuals. The genome-wide nucleotide diversity (π) of the Shennongjia population was 0.001842. The genetic differentiation (FST) between the QJP and DLT subpopulations was 0.034. The heterozygosity of individuals from QJP was 0.3475 ± 0.03696 and 0.3148 ± 0.03501 for individuals from DLT. Although the DLT and QJP subpopulations did not show significant genetic differences, genetic differentiation between the two subpopulations was confirmed using Bayesian cluster analysis, neighbor-joining trees and principal component analysis. These results suggest that the Shennongjia population of Sichuan snub-nosed monkey has relatively low genetic diversity at the genomic level. The little genetic differentiation noted between the DLT and QJP subpopulations likely due to natural and anthropogenic barriers which may exacerbate loss of genetic diversity of this endangered subpopulation.


Assuntos
Variação Genética , /genética , Animais , Teorema de Bayes , China , Espécies em Perigo de Extinção , Feminino , Masculino , Parques Recreativos , Filogenia , Polimorfismo de Nucleotídeo Único , População/genética , Análise de Sequência de DNA
7.
Gigascience ; 8(7)2019 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-31289833

RESUMO

BACKGROUND: Optical mapping is an emerging technology that complements sequencing-based methods in genome analysis. It is widely used in improving genome assemblies and detecting structural variations by providing information over much longer (up to 1 Mb) reads. Current standards in optical mapping analysis involve assembling optical maps into contigs and aligning them to a reference, which is limited to pairwise comparison and becomes bias-prone when analyzing multiple samples. FINDINGS: We present a new method, OMMA, that extends optical mapping to the study of complex genomic features by simultaneously interrogating optical maps across many samples in a reference-independent manner. OMMA captures and characterizes complex genomic features, e.g., multiple haplotypes, copy number variations, and subtelomeric structures when applied to 154 human samples across the 26 populations sequenced in the 1000 Genomes Project. For small genomes such as pathogenic bacteria, OMMA accurately reconstructs the phylogenomic relationships and identifies functional elements across 21 Acinetobacter baumannii strains. CONCLUSIONS: With the increasing data throughput of optical mapping system, the use of this technology in comparative genome analysis across many samples will become feasible. OMMA is a timely solution that can address such computational need. The OMMA software is available at https://github.com/TF-Chan-Lab/OMTools.


Assuntos
Genômica/métodos , Mapeamento por Restrição Óptica/métodos , Polimorfismo Genético , População/genética , Análise de Sequência de DNA/métodos , Software , Genoma Humano , Humanos , Filogenia
8.
BMC Cancer ; 19(1): 704, 2019 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-31315606

RESUMO

BACKGROUND: The early detection of synchronous bone metastasis (BM) in newly diagnosed colorectal cancer (CRC) affects its initial management and prognosis. A clinical model to individually predict the risk of developing BM would be attractive in current clinical practice. METHODS: A total of 55,869 CRC patients were identified from Surveillance, Epidemiology, and End Results (SEER) database, of whom 317 patients were diagnosed with synchronous BM. Risk factors for BM in CRC patients was identified using multivariable logistic regression. A weighted scoring system was built with beta-coefficients (P < 0.05). A random sample of 75% of the CRC patients was used to establish the risk model, and the remaining 25% was used to validate its accuracy of this model. The performance of risk model was estimated by receiver operating curve (ROC) analysis. RESULTS: The risk model consisted of 8 risk factors including rectal cancer, poorly-undifferentiation, signet-ring cell carcinoma, CEA positive, lymph node metastasis, brain metastasis, liver metastasis and lung metastasis. The areas under the receiver operating curve (AUROC) were 0.903 and 0.889 in the development and validation cohort. Patients with scores from 0 to 4 points had about 0.1% risk of developing BM, and the risk increased to about 30% in patients with scores ≥15 points. CONCLUSIONS: This clinical risk model is accurate enough to identify the CRC patients with high risk of synchronous BM and to further provide more individualized clinical decision.


Assuntos
Neoplasias Ósseas/secundário , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/patologia , Modelos Biológicos , Neoplasias Primárias Múltiplas/secundário , População , Área Sob a Curva , Estudos de Coortes , Confiabilidade dos Dados , Feminino , Humanos , Neoplasias Hepáticas/secundário , Modelos Logísticos , Neoplasias Pulmonares/secundário , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Curva ROC , Fatores de Risco , Programa de SEER , Estados Unidos
9.
Compr Child Adolesc Nurs ; 42(sup1): 173-178, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31192741

RESUMO

The aim of this quantitative study was to identify the effect of interactive education with 3-dimensional puzzles on the injury-prevention behaviours of school-age children in Bekasi, Indonesia. This study used a pre-post group design to select the intervention group and the control group. Of the 120 elementary school students included, 60 were placed in the intervention group and 60 in the control group. Multistage random sampling determined the schools, and simple random sampling determined the subjects. The results showed that interactive education with 3-dimensional puzzles was significant for knowledge (p < 0.001), attitude (p < 0.001) and injury prevention skills (p < 0.001). Interactive education sessions with 3-dimensional puzzles significantly improved knowledge related to injury prevention. Therefore, interactive education with 3-dimensional puzzles may prevent injuries in school-age children. School nurses can use this technique to improve their health education programs.


Assuntos
Jogos Recreativos/psicologia , Comportamentos Relacionados com a Saúde , Treinamento por Simulação/normas , Estudantes/psicologia , Ferimentos e Lesões/prevenção & controle , Criança , Feminino , Humanos , Indonésia , Masculino , População , Treinamento por Simulação/métodos , Estudantes/estatística & dados numéricos , Inquéritos e Questionários
10.
BMC Med ; 17(1): 99, 2019 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-31117993

RESUMO

BACKGROUND: School neighborhood food environment is recognized as an important contributor to childhood obesity; however, large-scale and longitudinal studies remain limited. This study aimed to examine this association and its variation across gender and urbanicity at multiple geographic scales. METHODS: We used the US nationally representative Early Childhood Longitudinal Study-Kindergarten cohort data and included 7530 kindergarteners followed up from 1998 to 2007. The Census, road network, and Dun and Bradstreet commercial datasets were used to construct time-varying measurements of 11 types of food outlet within 800-m straight-line and road-network buffer zones of schools and school ZIP codes, including supermarket, convenience store, full-service restaurant, fast-food restaurant, retail bakery, dairy product store, health/dietetic food store, candy store, fruit/vegetable market, meat/fish market, and beverage store. Two-level mixed-effect and cluster-robust logistic regression models were performed to examine the association. RESULTS: A higher body mass index (BMI) in 2007 was observed among children experiencing an increase of convenience stores in school neighborhoods during 1998-2007 (ß = 0.39, p < 0.05), especially among girls (ß = 0.50) and urban schoolchildren (ß = 0.41), as well as among children with a decrease of dairy product stores (ß = 0.39, p < 0.05), especially among boys (ß = 1.86) and urban schoolchildren (ß = 0.92). The higher obesity risk was associated with the increase of fast-food restaurants in urban schoolchildren (OR = 1.27 [95% CI = 1.02-1.59]) and of convenience stores in girls (OR = 1.41 [95% CI = 1.09-1.82]) and non-urban schoolchildren (OR = 1.60 [95% CI = 1.10-2.33]). The increase of full-service restaurants was related to lower obesity risk in boys (OR = 0.74 [95% CI = 0.57-0.95]). The decrease of dairy product stores was associated with the higher obesity risk (OR = 1.68 [95% CI = 1.07-2.65]), especially boys (OR = 2.92 [95% CI = 1.58-5.40]) and urban schoolchildren (OR = 1.67 [95% CI = 1.07-2.61]). The schoolchildren exposed to the decrease of meat/fish markets showed the lower obesity risk (OR = 0.57 [95% CI = 0.35-0.91]), especially urban schoolchildren (OR = 0.53 [95% CI = 0.32-0.87]). Results from analyses within 800-m straight-line buffer zones of schools were more consistent with our theory-based hypotheses than those from analyses within 800-m road-network buffer zones of schools and school ZIP codes. CONCLUSIONS: National data in the USA suggest that long-term exposure to the food environment around schools could affect childhood obesity risk; this association varied across gender and urbanicity. This study has important public health implications for future school-based dietary intervention design and urban planning.


Assuntos
Fast Foods/estatística & dados numéricos , Obesidade Pediátrica/epidemiologia , Características de Residência/estatística & dados numéricos , Instituições Acadêmicas/estatística & dados numéricos , Índice de Massa Corporal , Criança , Pré-Escolar , Estudos de Coortes , Meio Ambiente , Feminino , Frutas , Humanos , Estudos Longitudinais , Masculino , População , Restaurantes/estatística & dados numéricos , População Urbana/estatística & dados numéricos , Verduras
11.
Genetics ; 212(3): 869-889, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31123038

RESUMO

We present an algorithm for inferring ancestry segments and characterizing admixture events, which involve an arbitrary number of genetically differentiated groups coming together. This allows inference of the demographic history of the species, properties of admixing groups, identification of signatures of natural selection, and may aid disease gene mapping. The algorithm employs nested hidden Markov models to obtain local ancestry estimation along the genome for each admixed individual. In a range of simulations, the accuracy of these estimates equals or exceeds leading existing methods. Moreover, and unlike these approaches, we do not require any prior knowledge of the relationship between subgroups of donor reference haplotypes and the unseen mixing ancestral populations. Our approach infers these in terms of conditional "copying probabilities." In application to the Human Genome Diversity Project, we corroborate many previously inferred admixture events (e.g., an ancient admixture event in the Kalash). We further identify novel events such as complex four-way admixture in San-Khomani individuals, and show that Eastern European populations possess [Formula: see text] ancestry from a group resembling modern-day central Asians. We also identify evidence of recent natural selection favoring sub-Saharan ancestry at the human leukocyte antigen (HLA) region, across North African individuals. We make available an R and C++ software library, which we term MOSAIC (which stands for MOSAIC Organizes Segments of Ancestry In Chromosomes).


Assuntos
Modelos Genéticos , Linhagem , População/genética , Deriva Genética , Genética Populacional/métodos , Antígenos HLA/genética , Haplótipos , Humanos , Cadeias de Markov , Software
12.
Genetics ; 212(3): 855-868, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31123041

RESUMO

Pedigrees provide the genealogical relationships among individuals at a fine resolution and serve an important function in many areas of genetic studies. One such use of pedigree information is in the estimation of the short-term effective population size [Formula: see text], which is of great relevance in fields such as conservation genetics. Despite the usefulness of pedigrees, however, they are often an unknown parameter and must be inferred from genetic data. In this study, we present a Bayesian method to jointly estimate pedigrees and [Formula: see text] from genetic markers using Markov Chain Monte Carlo. Our method supports analysis of a large number of markers and individuals within a single generation with the use of a composite likelihood, which significantly increases computational efficiency. We show, on simulated data, that our method is able to jointly estimate relationships up to first cousins and [Formula: see text] with high accuracy. We also apply the method on a real dataset of house sparrows to reconstruct their previously unreported pedigree.


Assuntos
Modelos Genéticos , Linhagem , População/genética , Teorema de Bayes , Feminino , Genética Populacional/métodos , Humanos , Masculino , Cadeias de Markov
13.
Science ; 364(6439): 455-457, 2019 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-31048485

RESUMO

Radical environmental change that provokes population decline can impose constraints on the sources of genetic variation that may enable evolutionary rescue. Adaptive toxicant resistance has rapidly evolved in Gulf killifish (Fundulus grandis) that occupy polluted habitats. We show that resistance scales with pollution level and negatively correlates with inducibility of aryl hydrocarbon receptor (AHR) signaling. Loci with the strongest signatures of recent selection harbor genes regulating AHR signaling. Two of these loci introgressed recently (18 to 34 generations ago) from Atlantic killifish (F. heteroclitus). One introgressed locus contains a deletion in AHR that confers a large adaptive advantage [selection coefficient (s) = 0.8]. Given the limited migration of killifish, recent adaptive introgression was likely mediated by human-assisted transport. We suggest that interspecies connectivity may be an important source of adaptive variation during extreme environmental change.


Assuntos
Adaptação Biológica/genética , Poluição Ambiental , Evolução Molecular , Fundulidae/genética , População/genética , Receptores de Hidrocarboneto Arílico/genética , Alelos , Migração Animal , Animais , Fluxo Gênico , Variação Genética , Hidrocarbonetos Policíclicos Aromáticos/toxicidade
15.
Geospat Health ; 14(1)2019 05 13.
Artigo em Inglês | MEDLINE | ID: mdl-31099511

RESUMO

Dirofilaria immitis is the causal agent of heartworm, a mosquito-borne parasite that primarily infects domestic and wild canids. The infection is endemic in parts of Canada, and Ontario has been identified as the province where the majority of heartworm infections occur. Test results for blood samples submitted by veterinary clinics for the years 2007-2016 were used to conduct a spatial risk analysis of heartworm among domestic dogs in Ontario. The geographic extent of the apparent heartworm prevalence was examined through smoothed choropleth maps for all 49 census division regions. Furthermore, the regions were assessed for local clusters in apparent prevalence using the flexible spatial scan statistic. Three clusters were found and located in western, southern and eastern Ontario, respectively. A spatial Poisson regression model for heartworm prevalence among pet dog populations in southern Ontario census divisions was fit to determine the association between human population size, heartworm development units (HDUs), climate moisture index (CMI), precipitation and directions, east or north, with heartworm infection. The model identified the spatial distribution of HDUs and CMI as positively associated with heartworm infection and therefore important predictors of the infection. In contrast, human population size, increasing northern latitude and drier areas were negatively associated with heartworm infection. The east direction and precipitation were not significant.


Assuntos
Clima , Dirofilariose/epidemiologia , Doenças do Cão/epidemiologia , Animais , Dirofilaria immitis , Cães , Ontário/epidemiologia , População , Prevalência , Fatores de Risco , Análise Espacial
16.
Eur J Med Genet ; 62(7): 103656, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31028847

RESUMO

Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.490delG associated with xeroderma pigmentosum variant (XPV) and CATSPER1 c.859_860delCA responsible for spermatogenic failure) were shown to be recurrent. 27 out of 36 pathogenic alleles were already described in prior genetic studies; seven of them occurred only in the index cases, while 20 demonstrated evidence for persistence in Russian population. In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). These data deserve to be considered in future medical genetic activities.


Assuntos
Exoma , Predisposição Genética para Doença , Taxa de Mutação , População/genética , Humanos , Polimorfismo Genético , Federação Russa
18.
Genetica ; 147(2): 177-183, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30887215

RESUMO

The Kho population speaking Khowar language reside since long ago in Chitral District of North-western Pakistan. So far, no report is available about their genetic structure and relationship with surrounding population groups. We partially sequenced the mitochondrial DNA control region from 16 unrelated Kho male and female individuals of different ages. The D-Loop region sequences of Kho were aligned and compared with the revised Cambridge Reference Sequence (rCRS). The genetic data of Kho was compared with surrounding north-western Pakistani population groups including Pathan, Kashmiri, and Hazara. Comparison with rCRS identified overall 49 different haplotypes for Kho samples. Among these 21 haplotypes were shared by more than one Kho individuals. The genetic diversity and power of discrimination observed for Kho group were 0.215 and 0.202 respectively indicating the Kho tribe as a least differentiated group among north-western Pakistani populations. The haplogroup mapping, phylogenetic and haplotype network analysis revealed the nearby maternal ancestral relationship between Kho and Kashmiri populations. The haplogroups analysis demonstrates the western Eurasian ancestral origin of Kho samples. However, the appearance of a few South Asian haplogroups with low frequency speculate the Kho tribe as an admixed population of western Eurasian and South Asian genetic components.


Assuntos
DNA Mitocondrial/genética , Haplótipos , População/genética , DNA Mitocondrial/química , Frequência do Gene , Migração Humana , Humanos , Paquistão , Linhagem , Sequências Reguladoras de Ácido Nucleico
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