深圳地区无精子症和少精子症患者的分子和细胞遗传学分析  

Molecular and cytogenetic analysis in patients with azoospermia or oligozoospermia in Shenzhen area

作　　者：蔡靖 朱元昌 吴彤华 卢燕玲 黄韵 李观贵 曾勇 

机构地区：[1]深圳中山泌尿外科医院生殖医学中心 [2]深圳市围着床期生殖免疫重点实验室 [3]深圳中山生殖与遗传研究所,广东深圳518045

出　　处：《中国优生与遗传杂志》2015年第7期129-131,128,共4页Chinese Journal of Birth Health & Heredity

基　　金：深圳市基础研究项目;编号:JCYJ20140415114532535

摘　　要：目的探讨深圳地区无精子症、少精子症患者染色体异常核型和Y染色体无精子因子(azoospermia factor,AZF)微缺失的发生率和分布类型,进一步明确其在男性不育中的诊断意义。方法回顾性分析了自2006年1月至2014年1月共1591例无精子症、少精子症患者的染色体核型和AZF微缺失。染色体核型分析采用外周血淋巴细胞培养G显带方法;AZF微缺失采用多重PCR技术对AZF基因的四个亚区(AZFa-d)共15个序列标签位点(sequence tagged sites,STSs)进行检测。结果在1591例无精子症、少精子症患者中279例有遗传学缺陷,异常率为17.54%。染色体异常核型210例,发生率为13.20%(210/1591),Klinefelter's综合征患者24例(11.43%),Y染色体结构异常103例(49.05%)。AZF微缺失85例,检出率为5.34%,最常见的微缺失区域是AZFc区联合部分AZFd区缺失(63.53%,54/85),在所有位点中s Y152缺失频率最高(88.24%,75/85)。结论染色体异常核型和AZF微缺失是导致男性不育的主要原因之一。结合细胞水平和分子水平筛查可以更加全面的评估无精子症、少精子症患者遗传学缺陷,为男性不育患者提供更好的病因诊断,遗传咨询及治疗方案的选择。Objective：To determine the incidence and distribution of chromosomal abnormalities and Y chromosome azoospermia factor（AZF）microdeletion in patients with azoospermia or oligozoospermia in Shenzhen area,and to confirm that they can offer a diagnostic values for male infertility. Methods：We retrospectively analyzed karyotypes and AZF microdeletions of 1591 patients with azoospermia or ologozoospermia from January 2006 to January 2014. Conventional G banding techniques were used to conduct the karyotyping analysis after culturing lymphocytes from the peripheral blood and multiplex PCR was performed to detect AZF microdeletion in 15 sequence tagged sites（STSs）in four AZF sub-regions. Results：A total of 279 cases of genetic defects were found in 1591 patients with azoospermia or oligozoospermia,and the abnormal rate was 17.54%. There were 210 cases with abnormal karyotype,and its incidence was 13.20%（210/1591）,including 24 cases of Klinefelter＇s syndrome and 103 cases with abnormal structure of Y chromosome（49.05%）. Microdeletion in AZF regions was found out in 85 cases and the deletion rate was 5.34%. The most common AZF microdeletion was in AZFc＋d regions（63.53%,54/85）and the most frequent STS deletion was s Y152（88.24%,75/85）in AZFd region. Conclusion：Chromosomal abnormality and AZF microdeletion might be one of the important causes of male infertility. Combined with cytogenetic and molecular screening might be a more thorough assessment of genetic defects for azoospermia or oligozoospermia,which can offer the male infertility patients with better etiologic diagnosis,genetic counseling and choices for therapeutic strategies.

关 键 词：无精子症 少精子症 无精子因子 核型分析 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]