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Urol Int ; 90(4): 455-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23548818

RESUMO

The human Y chromosome is essential for human sex determination and spermatogenesis. The long arm contains the azoospermia factor (AZF) region. Microdeletions in this region are responsible for male infertility. The objective of this study was to determine the frequency of Y microdeletions in Algerian infertile males with azoospermia and oligoasthenoteratozoospermia syndrome (OATS) and to compare the prevalence of these abnormalities with other countries and regions worldwide. A sample of 80 Algerian infertile males with a low sperm count (1-20 × 10(6) sperms/ml) as well as 20 fertile male controls was screened for Y chromosome microdeletions. 49 men were azoospermic and 31 men had OATS. Genomic DNA was isolated from blood and polymerase chain reaction was carried out with a set of 6 AZFa, AZFb and AZFc STS markers to detect the microdeletions as recommended by the European Academy of Andrology. Among the 80 infertile men screened for microdeletion, 1 subject was found to have microdeletions in the AZFc (sY254 and sY255) region. The deletion was found in azoospermic subjects (1/49, 2%). The overall AZF deletion frequency was low (1/80, 1.3%). AZF microdeletions were observed neither in the OATS group nor in the control group. The frequency of AZF microdeletions in infertile men from Algeria was comparable to those reported in the literature. We suggest analyzing 6 STS in the first step to detect Y microdeletions in our population.


Assuntos
Azoospermia/genética , Fertilidade/genética , Doenças Genéticas Ligadas ao Cromossomo Y/genética , Infertilidade Masculina/genética , Oligospermia/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Argélia , Azoospermia/diagnóstico , Azoospermia/fisiopatologia , Estudos de Casos e Controles , Deleção Cromossômica , Cromossomos Humanos Y/genética , Doenças Genéticas Ligadas ao Cromossomo Y/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo Y/fisiopatologia , Predisposição Genética para Doença , Testes Genéticos , Humanos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/fisiopatologia , Masculino , Pessoa de Meia-Idade , Oligospermia/diagnóstico , Oligospermia/fisiopatologia , Fenótipo , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Espermatozoides/patologia
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