Y染色体AZF区域微缺失的细胞遗传学和分子遗传学研究  

A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome

作　　者：肖晓素[1] 刘晓翌[1] 王勇强[1] 张银汉[1] 杨媛慧[1] 廖立斌[1] 蔡志明[1] 

机构地区：[1]广东省深圳市北京大学深圳医院生殖中心遗传室,518036

出　　处：《中华医学遗传学杂志》2004年第3期267-268,共2页Chinese Journal of Medical Genetics

摘　　要：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 。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.

关 键 词：无精症 无精子因子 微缺失 Y染色体 细胞遗传学 分子遗传学 

分 类 号：R394[医药卫生—医学遗传学]