Genes on the long arm of Y chromosome, particularly interval 6, are believed to play a critical role in human spermatogenesis. The objective of this study was to validate a sequenced-tagged site (STS)-mapping strategy for the detection of Yq
microdeletion and to use this method to determine the proportion of men with Yq microdeletions in idipathic, obstructive, nonobstructive azoospermia, severe OATS and in normal males. We analyzed three STS markers mapped to interval 6 within long
arm of
the Y chromosome from 106 nonobstructive, 30 obstructive azoospermia, 15 severe OATS patients, and normal 42 males in Korean men. By PCR, we tested leukocyte DNA, for the presences of STS markers (DAZ, sY129 and sY134) and SRY gene as internal
control.
And PCR results were confirmed by Southern hybridization, and were investigated by SSCP analysis for DAZ gene mutation. None of 2 normal males and 30 obstructive azoospermia had microdeletions. Of the 15 severe OATS typed with DAZ, sY129 and
sY134,
3
(20.0%) patients failed to amplify 1 or more STS markers, and of the 106 nonobstructive azoospermia typed with DAZ, sY129 and sY134, 12 (11.3%) patients failed to amplify 1 or more STS markers. From these results, high prevalence (12.4%) of Yq
deletion
(DAZ, sY129, sY134) in men with nonobstructive idopathic azoospermia and severe OATS were observed in Korean infertility patients. To avoid the infertile offspring by assisted reproductive technique using ICSI or ROSI, preimplantation genetic
diagnosis
will be needed in IVF-ET program.
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