Y Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India.

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dc.contributor.authorSuganya, Jaganathan
dc.contributor.authorKujur, Smita B.
dc.contributor.authorSelvara, Kamala
dc.contributor.authorSuruli, Muthiah S.
dc.contributor.authorHaripriya, Geetha
dc.contributor.authorSamuel, Chandra R.
dc.date.accessioned2017-01-31T09:52:32Z
dc.date.available2017-01-31T09:52:32Z
dc.date.issued2016
dc.description.abstractAim: Yq microdeletions involving the azoospermia factor (AZF) region are the second most frequent genetic cause of spermatogenic failure next to Klinefelter syndrome. These deletions occur in about 10-15 percent of men with azoospermia and severe oligozoospermia. Molecular screening for AZF deletions has become mandatory in the work-up of infertile men. Further, partial AZFc deletions categorized as gr/gr, b2/b3, b1/b3 and b2/b4 deletions have also been known to affect spermatogenesis. This study aimed to screen for both classical AZF deletions in 250 karyotypically normal infertile men from south India and partial AZFc deletions as a case-control analysis involving 108 fertile men. Methods: PCR amplification involving two multiplex reactions was carried out using primers for six STSs sY84, sY86 (AZFa), sY127, sY134 (AZFb), and sY254, sY255 (AZFc) with two internal controls (SRY, ZFY). Further, those men who showed deletions with one or both STSs sY1291 and sY1191 were subsequently tested with sY1189 and sY1192 to detect partial AZFc deletions. Results: One individual showed deletion of all the three AZF regions while two men had only AZFc deletion. Deletion of partial AZFb (sY127) was seen besides complete AZFc region in the fourth patient. The gr/gr, b2/b3 and b1/b3 deletions were detected in 24 (9.6%), one (0.4%) and nine (3.6%) infertile men in comparison with five, one and two fertile men respectively. The b2/b4 deletion was observed in a single azoospermic individual. Conclusion: Screening for AZF deletions would help in not only determining the cause for male infertility but also in its management and accurate genetic counselling.en_US
dc.identifier.citationSuganya Jaganathan, Kujur Smita B., Selvaraj Kamala, Suruli Muthiah S. , Haripriya Geetha, Samuel Chandra R. Y Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India.British Journal of Medicine and Medical Research. 2016; 13(12): 1-10.en_US
dc.identifier.issn2231-0614
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/182712
dc.language.isoenen_US
dc.source.urihttps://www.sciencedomain.org/abstract/13446en_US
dc.subjectYq microdeletionsen_US
dc.subjectAZF regionen_US
dc.subjectpartial AZFc deletionen_US
dc.subjectmale infertilityen_US
dc.subjectspermatogenic failureen_US
dc.subjectazoospermiaen_US
dc.titleY Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India.en_US
dc.typeArticleen_US
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