Y染色体AZF区域微缺失的细胞遗传学和分子遗传学研究

目的　研究无精症患者 Y染色体的形态学改变及相应的无精子因子 ( azoospermia factor,AZF)区域的微缺失位点 ,为无精症患者进行明确的遗传学诊断。方法　采用外周血染色体 G显带、C显带技术和多重聚合酶链反应技术 ,对 2例无精症患者进行了细胞遗传学和分子遗传学检测。结果　 2例无精症患者 Y染色体都发生了明显形态学改变 ,核型分别为 4 5 ,X,- Y,- 2 2 , der( Y) t( Y;2 2 ) ( q11.2 ;q11.2 ) ;4 6 ,XY,del( Y) ( q11.2 )。在所选择的 AZFa、AZFb、AZFd、AZFc区域的 12个序列标签位点中 ,1例发生 10个位点缺失 ,另一例发生 11个位点缺失。结论　通过细胞遗传学检查及 Y染色体上 AZF区域微缺失的检测 ,对男性不育患者提供更加明确的遗传学诊断

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. 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.