无精子症和严重少精子症患者Y染色体微缺失和基因缺失研究  

Y chromosome microdeletion and gene deletion screening in infertile men with idiopathic azoospermia and oligospermia

作　　者：李座祥[1,2] 汪朝晖[3] 王媛媛[1,2] 唐文豪[4] 马潞林[4] 马旭[1,2] 

机构地区：[1]中国协和医科大学 [2]国家人口计生委科学技术研究所遗传室,北京100081 [3]国家人口计生委科学技术研究所遗传室 [4]北京大学第三医院泌尿外科

出　　处：《生殖医学杂志》2006年第4期217-221,共5页Journal of Reproductive Medicine

基　　金：国家重点基础研究发展规划"973项目"资助(G1999.055905)

摘　　要：目的研究中国特发性无精子症和少精子症患者Y染色体无精子症因子(AZF)区缺失和其中RBMY1A1、DAZ基因缺失。方法选取AZFa、b和c区6个序列标签位点(STS)对56例少精子症和33例无精子症患者进行外周血Y染色体微缺失分析,对缺失样本进行RBMY1A1和DAZ基因缺失分析。结果共确认6例患者发生Y染色体微缺失和基因缺失、占7%(6/89);其中5例AZFc/DAZ基因缺失,1例AZFb+c/RBMY1A1和DAZ基因缺失。结论AZF部分区域缺失的患者同时伴有与精子生成具有重要作用的基因缺失,并可能由此导致精子生成障碍。Objective： To screen the Y chromosome microdeletion in oligospermia. nfertile men with idiopathic azoospermia and oligospermia Methods： Eighty-nine samples（56 oligospermia and 33 azbospermia patients） were screened for 6 STS loci from AZFa, b and c regions by multi-PCR. The single STS, RBMYlAl and DAZ gene in those with microdeletion were further verified with single PCR. Results： With the screening and verification, 6 infertile men were identified as Y chromosome microdeletion from 89 patients （7%）. Among them, AZFc/DAZ deletion occurred in 2 oligospermia and 3 azoospermia men, respectively; another azoospermia man showed a deletion of AZFb ＋ c/DAZ /RBMYlAl. Conclusions： After optimization, 89 infertile men were screened and 6 Y chromosome microdeletions were identified. The patients with Y chromosome deletions also had gene deletions. Maybe these genes＇ deletion resulted in the male infertility.

关 键 词：男性不育 Y染色体微缺失 DAZ RBMY 

分 类 号：R698[医药卫生—泌尿科学] R394.3[医药卫生—外科学]