Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Mais filtros












Base de dados
Intervalo de ano de publicação
1.
Transfusion ; 61(3): 678-681, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33084042

RESUMO

BACKGROUND: When the mother's DNA profile is not available for paternity testing, there is a smaller probability that a locus will exclude an alleged father. This study aims to evaluate the risk of potential false paternity inclusions in motherless cases. STUDY DESIGN AND METHODS: More than 20 000 duos were generated by removing the maternal genotypes from exclusion trios. After recalculating paternity in these duos, any found inclusions would be false. RESULTS: The use of an appropriate number of loci, mutation model, and mutation rates to analyze motherless paternity cases was robust against false inclusions. A single potential false inclusion was observed in a case wherein kinship plays a role. This result highlights the importance of testing the mother when available and of obtaining information on family circumstances for the proper handling of cases involving related individuals. CONCLUSION: The guidelines we used here were sufficient to avoid false inclusions in a data set of more than 20 000 motherless cases.


Assuntos
Loci Gênicos , Repetições de Microssatélites , Alelos , Simulação por Computador , Feminino , Genótipo , Humanos , Masculino , Mães , Mutação , Paternidade , Probabilidade
3.
Mol Biol Evol ; 30(9): 2157-67, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23821607

RESUMO

The phagocyte NADPH oxidase catalyzes the reduction of O2 to reactive oxygen species with microbicidal activity. It is composed of two membrane-spanning subunits, gp91-phox and p22-phox (encoded by CYBB and CYBA, respectively), and three cytoplasmic subunits, p40-phox, p47-phox, and p67-phox (encoded by NCF4, NCF1, and NCF2, respectively). Mutations in any of these genes can result in chronic granulomatous disease, a primary immunodeficiency characterized by recurrent infections. Using evolutionary mapping, we determined that episodes of adaptive natural selection have shaped the extracellular portion of gp91-phox during the evolution of mammals, which suggests that this region may have a function in host-pathogen interactions. On the basis of a resequencing analysis of approximately 35 kb of CYBB, CYBA, NCF2, and NCF4 in 102 ethnically diverse individuals (24 of African ancestry, 31 of European ancestry, 24 of Asian/Oceanians, and 23 US Hispanics), we show that the pattern of CYBA diversity is compatible with balancing natural selection, perhaps mediated by catalase-positive pathogens. NCF2 in Asian populations shows a pattern of diversity characterized by a differentiated haplotype structure. Our study provides insight into the role of pathogen-driven natural selection in an innate immune pathway and sheds light on the role of CYBA in endothelial, nonphagocytic NADPH oxidases, which are relevant in the pathogenesis of cardiovascular and other complex diseases.


Assuntos
Infecções Bacterianas/genética , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , NADPH Oxidases/genética , Sequência de Aminoácidos , Animais , Povo Asiático , Bactérias/enzimologia , Infecções Bacterianas/complicações , Infecções Bacterianas/enzimologia , Infecções Bacterianas/etnologia , Proteínas de Bactérias/metabolismo , População Negra , Catalase/metabolismo , Evolução Molecular , Variação Genética , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/enzimologia , Doença Granulomatosa Crônica/etnologia , Haplótipos , Interações Hospedeiro-Patógeno , Humanos , Glicoproteínas de Membrana/classificação , Dados de Sequência Molecular , Mutação , NADPH Oxidase 2 , NADPH Oxidases/classificação , Filogenia , Seleção Genética , População Branca
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...