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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866 EISSN: 0971-6866
Vol. 12, No. 2, 2006, pp. 66-71
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Bioline Code: hg06011
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Human Genetics, Vol. 12, No. 2, 2006, pp. 66-71
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Original Communication - Y chromosome microdeletions in Turkish infertile men
Zamani AyseGul, Kutlu Ruhusen, Durakbasi-Dursun HGul, Gorkemli Huseyin, Acar Aynur
Abstract
AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population.
SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF) screening program.
MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done.
RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50), including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8%) exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29) and 4.7% (1/21) respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated.
CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE)/ISCI treatment.
Keywords
AZF region, azospermia, chromosomal abnormality, male infertility, oligozoospermia, Y-chromosome
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