Y染色体AZFc微缺失规律的研究  

Breakpoints located by sequence tagged sites of AZFc microdeletion in Chinese Han population

作　　者：吴青[1,2] 王磊光 吴斌[3] 邱毅 徐彦[3] 刘淼[3] 王鹏[3] 袁瑶[3] 施惠娟[1,3] 

机构地区：[1]山东省优生技术重点实验室,山东省计划生育科学研究所,山东济南250002 [2]福建省立医院妇产科,福建医科大学省立临床医学院,福建福州350001 [3]国家人口和计划生育委员会计划生育药具重点实验室,上海市计划生育科学研究所,上海200032

出　　处：《中华男科学杂志》2012年第5期387-390,共4页National Journal of Andrology

基　　金：国家自然科学基金(30872765);山东省优生技术重点实验室开放基金(2011-02);上海市重点学科建设项目(S30201)~~

摘　　要：目的:探讨中国汉族人群Y染色体AZFc微缺失的规律。方法:采用9个STS位点(sY84、sY86、sY127、sY134、sY152、sY145、sY255、sY254、sY157)的多重PCR,排除sY84、sY86、sY127、sY134缺失的患者,共有194例严重少弱精子症或非梗阻性无精子症汉族男性发生AZFc微缺失;对其中192例sY254、sY255、sY157缺失的患者,再通过sY1191、sY1197、sY1054、sY1125及sY1206 STS位点检测,分析其缺失规律。结果:192例sY254、sY255、sY157缺失患者存在5种缺失模式,其中常见的为sY1197(+)、sY1191(-)、sY1206(-)、sY1054(-)、sY1125(+),占54.17%(104/192);sY1197(+)、sY1191(+)、sY1206(-)、sY1054(-)、sY1125(+),占28.12%(54/192);sY1197(+)、sY1191(-)、sY1206(-)、sY1054(+)、sY1125(+),占14.58%(28/192)。70.83%的AZFc微缺失患者,近端缺失区域发生在sY1197和sY1191之间(属于b2区域);82.29%的AZFc微缺失患者,远端缺失区域发生在sY1054和sY1125之间(属于b4区域)。结论:中国汉族人群AZFc微缺失有5种缺失模式,AZFc微缺失近、远端缺失位点基本集中于复制子b2和b4。Objective： To investigate the breakpoints of the azoospermia factor c（AZFc） microdeletion in Chinese Han population.Methods： We detected 9 sequence tagged sites（sY84,sY86,sY127,sY134,sY152,sY145,sY255,sY254 and sY157） to confirm AZFc microdeletions in the Y chromosome for patients with severe oligozoospermia or non-obstructive azoospermia by multiplex polymerase reaction.To locate the breakpoints of AZFc microdeletions,we analyzed 192 patients with sY255,sY254 and sY157 deleted by detecting sY1191,sY1197,sY1054,sY1125 and sY1206,respectively.Results： Five breaking patterns were found in the 192 patients with sY255,sY254 and sY157 deleted,among which the common ones were sY1197（＋）,sY1191（-）,sY1054（-）,sY1206（-） and sY1125（＋）,which accounted fro 54.17%（104/192）,sY1197（＋）,sY1191（＋）,sY1206（-）,sY1054（-） and sY1125（＋）,which constituted 28.12%（54/192）,sY1197（＋）,sY1191（-）,sY1206（-）,sY1054（＋） and sY1125（＋）,which made up 14.58%（28/192）.The proximal breakpoint located between sY1197 and sY1191 was 70.83% of AZFc microdeletions,and the distant breakpoint located between sY1054 and sY1125 was 82.29%.Conclusion： There are 5 breaking patterns of AZFc microdeletions in Chinese Han population,the proximal and distant breakpoints mostly located at the replicons b2 and b4,respectively.

关 键 词：Y染色体微缺失 AZFc 序列标签位点 规律性 

分 类 号：R698.2[医药卫生—泌尿科学]