Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia |
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Authors: | Rima Dada N P Gupta K KucherIA |
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Institution: | (1) Department of Anatomy, All India Institute of Medical Sciences, 110 029 New Delhi, India;(2) Department of Urology, All India Institute of Medical Sciences, 110 029 New Delhi, India |
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Abstract: | Infertility affects 15% couples attempting pregnancy and in 40–50% of these cases the male partner has qualitative or quantitative
abnormalities of sperm production. Microdeletions in the azoospermia factor (AZF) region on the long arm of the Y chromosome
are known to be associated with spermatogenic failure and have been used to define three regions on Yq (AZFa, AZFb and AZFc)
which are critical for spermatogenesis and are recurrently deleted in infertile males. Semen analysis was carried out on one
hundred and twenty five infertile males with oligozoospermia and azoospermia. Cytogenetic analysis was done for all the cases
and in all cytogenetically normal cases (n = 83) microdeletion analysis was carried out on DNA extracted from peripheral blood using PCR. The sequence tagged sites
(STS) primers sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc) were used for each case. Eight of the eighty three
cases (9.63%) showed deletion of at least one of the STS markers. Correlation of phenotype with microdeletion was done in
each case to determine any phenotype association with deletion of particular AZF locus. Based on the present study, the frequency
of microdeletion in the Indian population is 9.63%. This study emphasizes the need for PCR analysis for determining genetic
aetiology in cases with idiopathic severe testiculopathy. |
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Keywords: | Azoospermia azoospermia factor infertility oligozoospermia |
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