A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the genetic causes of azoospermia and severe oligozoospermia.</p><p><b>METHODS</b>Cytogenetic analysis and multiplex polymerase chain reaction(PCR) analysis were done on the 148 patients with azoospermia and serious oligozoospermia.</p><p><b>RESULTS</b>Eleven of the 148(7.4%) cases showed microdeletion of at least one STS. In fifteen STS of AZFa, AZFb,AZFd, AZFc, thirteen STS, eleven STS,two STS and one STS microdeletion were found in each case respectively, including two with 12 STS, five with 5 STS microdeletion.Seven cases had chromosomal morphologic changes(4.7%),four had deletion and one had deletion with translocation of long arm on Y chromosome. One had enlarged region one band two(q12) on long arm of Y chromosome and one had reciprocal translocation of autosomes.</p><p><b>CONCLUSION</b>The findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.</p>