17例AZFc区缺失患者家系研究及缺失断点序列分析  

An Investigation of 17 Yq AZFc Microdeletion Pedigrees and Sequence Ananlysis of Breakpoint

作　　者：李琳琳[1,2] 梁骥[2] 安娜[2] 彭迪[2] 刘睿智[2] 朱玉琢[1] 

机构地区：[1]吉林大学基础医学院遗传学系,长春130021 [2]吉林大学第一医院生殖医学中心产前诊断中心,长春130021

出　　处：《生殖与避孕》2013年第12期816-821,共6页Reproduction and Contraception

基　　金：2011年国家人口和计划生育委员会科学技术司项目,项目编号:2011-GJKJS-07

摘　　要：目的:探讨在自然生育条件下Y染色体AZFc区缺失来源,同时进行断点序列比对来分析断点的位置。方法:通过对AZF区22个序列标签位点(STS)多重PCR扩增,检测家系样本缺失情况。结果:17例AZFc区缺失家系中,13例为新生突变,突变率为76.47%;4例为垂直传递,遗传率为23.53%。新生突变和垂直传递患者在年龄、生殖激素水平及睾丸体积组间差异无统计学意义(P<0.05)。近端缺失断点多集中于sY1197、sY1191,远端多集中于sY157、sY1054。结论:AZFc区缺失患者绝大多数为新生突变,且新生突变与垂直传递患者无明显差别;AZFc区缺失近、远端缺失断点多集中于复制子b2和b4。Objective： To study the patrilineal line of infertile men with Y chromosome microdeletions and to describe the breakpoint ofAZFc microdeletions after naturally conceived. Methods： AZF microdeletions were detected by PCR of 22 sequencetagged sites （STSs） within Yq emphasizing the AZFa, b and c regions. Results： The de novo mutation rate ofAZFc microdeletions was 76.47% （13/17）, the vertical transmission of Yq AZFc microdeletion was detected in 4 cases of 17 investigated families （23.53%, 4/17）, and there were no significant differences between the two groups regarding age, reproductive hormone levels and testicular volume. The proximal breakpoints were focused on sY1197, sY1191 and the distal breakpoints were focused on sY157, sY1054. Conclusion： The vast majority of patient＇ Yq AZFc deletions were de nove mutations and there were no obviously statistical differences between the denovo mutation patients and vertical transmission patients; the proximal and distant breakpoints mostly located at the replicons b2 and b4, respectively.

关 键 词：家系研究 AZFc区微缺失 断点序列分析 

分 类 号：R596[医药卫生—内科学]