[A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome].
OBJECTIVE
To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.


METHODS
Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.


RESULTS
The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.


CONCLUSIONS
The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.
Xiao
Xiao-su
XS
Laboratory of Genetics, Reproductive Medical Center, Shenzhen Hospital of Beijing University, Shenzhen, Gungdong, 518036 PR China. Xiaosu_xiao@yahoo.com.cn
Liu
Xiao-yi
XY
Wang
Yong-qiang
YQ
Zhang
Yin-han
YH
Yang
Yuan-hui
YH
Liao
Li-bing
LB
Cai
Zhi-ming
ZM
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics*
D029589:Seminal Plasma Proteins