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Published on: January 28, 2014
[A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome]
Xiao-su Xiao1, Xiao-yi Liu, Yong-qiang Wang
1Laboratory of Genetics, Reproductive Medical Center, Shenzhen Hospital of Beijing University, Shenzhen, Gungdong, 518036 PR China. Xiaosu_xiao@yahoo.com.cn
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.
Conclusion:
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.
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