Y-chromosome
microdeletions on male
Major
focus of our research on male infertility is on elucidating the genetic and
chromosomal abnormalities in non obstructive azoospermia and severe oligoasthenozoospermia. The possibility of
microdeletions of Y-chromosome and
A
chromosomal aberration in these cases is being investigated in detail. Studies
so far have revealed a frequency of 5.3% of Y chromosome microdeletions and
7%abnormal karyotype (Klinefelter’s mosaic) in these cases. The most frequent
deletions
were seen in AZF b and AZFc regions of the Y chromosome. Screening for these
loci therefore can provide valuable adjuncts to assisted reproductive techniques
like ICSI to prevent transmission of these genetic abnormalities to the
progeny.
The functional role of the spermatogenic genes and their proteins are being
analysed with reference to aberrant spermatogenesis.
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