[A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients].
OBJECTIVE
To investigate the genetic causes of azoospermia and severe oligozoospermia.


METHODS
Cytogenetic analysis and multiplex polymerase chain reaction(PCR) analysis were done on the 148 patients with azoospermia and serious oligozoospermia.


RESULTS
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.


CONCLUSIONS
The findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.
Cai
Zhi-ming
ZM
Laboratory of Genetics, Reproductive Medical Center, Shenzhen Hospital of Beijing University, Shenzhen, Guangdong, 518036 PR China.
Xiao
Xiao-su
XS
Liu
Xiao-yi
XY
Wang
Yong-qiang
YQ
D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion; D016324:Sequence Tagged Sites
D029589:Seminal Plasma Proteins