Analysis of microdeletions of azoospermia factor genes on Y chromosome in infertile males / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the location and characteristics of microdeletions of Y chromosome azoospermia factor (AZF) genes in infertile males with azoospermia and severe oligozoospermia in southern Sichuan.</p><p><b>METHODS</b>Multiplex PCR was used to detect 18 sequence tagged sites (STS) involved in Y chromosome AZF microdeletions among 224 infertile males (including 134 azoospermia cases and 90 severe oligozoospermia cases) and 70 healthy males.</p><p><b>RESULTS</b>Among the 224 infertile males, the overall frequency of microdeletions was 12.1% (27/224), and were 13.4% (18/134) in those with azoospermia and 10.0% (9/90) in those with severe oligozoospermia. The most frequent microdeletions have occurred in the AZFc region (51.9%). Compared with the 6 STS loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network, 22.7% more deletions were detected based on the 18 STS loci selected from the AZF region.</p><p><b>CONCLUSION</b>Identification of Y chromosome microdeletions has a significant implication on the diagnosis of male infertility. The most frequent microdeletions have occurred in the AZFc region in southern Sichuan. To use more sequence tagged sites for the screening can improve the reliability and detection rate of Y chromosome microdeletions.</p>