[Screening for Y chromosomal microdeletions in AZF region with modified multiplex PCR].
OBJECTIVE
Screening for Y chromosomal microdeletions in azoospermia factor (AZF) region with modified multiplex PCR.


METHODS
160 cases with spermatogenetic failure were recruited in the experimental group, while 90 cases of donors in controls. According to the laboratory guidelines supported by European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN), Y chromosomal microdeletions in AZFa, b, c regions were screened with multiplex PCR. The primers of sequence targeted sites (STSs) and conditions of PCR were modified.


RESULTS
Using modified multiplex PCR, 14 (8.75%) cases with Y chromosomal microdeletions were found in the experimental group, while no case in controls. There were 12 cases in AZFc, 1 case in AZFa + b + c, 1 case in AZFb + c. According to statistics, the difference between two groups was significant (P <0.001). Reaction products could be clearly separated with agarose gel and finished in 1 h.


CONCLUSIONS
Modified multiplex PCR protocols supported by EAA and EMQN proved to be very accurate, sensitive and quick, which could be put into screening practice for Y chromosomal microdeletions in AZF region.
Zhu
Xiao-bin
XB
Shanghai Institute of Andrology, Shanghai Human Sperm Bank, Renji Hospital Affiliated to Shanghai Second Medical University, China.
Guo
An-liang
AL
Cao
Xiao-rong
XR
Liu
Yong
Y
Sun
Xu-xu
XX
Yao
Jian-er
JE
Wang
Yi
Y
Wang
Yi-xin
YX
Li
Zheng
Z
D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D029589:Seminal Plasma Proteins / Q000235:genetics
D029589:Seminal Plasma Proteins