男性生殖异常患者Y染色体异常及AZF微缺失分析  

Analysis of Y chromosome abnormalities and azoospermia factor microdeletions in male infertility

作　　者：董媛[1] 武婧[1] 杜日成[2] 姜雨婷[1] 李磊磊[2] 刘睿智[1] 

机构地区：[1]吉林大学白求恩第一医院生殖医学中心产前诊断中心,长春130021 [2]吉林大学白求恩医学院细胞生物学系

出　　处：《中华检验医学杂志》2013年第1期50-52,共3页Chinese Journal of Laboratory Medicine

基　　金：2011年国家人口计生委项目资助课题（2011-GJKJS-07）

摘　　要：目的探讨Y染色体异常及AZF微缺失与男性生殖异常的关系。方法病例对照研究。收集2007年4月至2011年4月因生殖异常到吉林省生殖医学研究所临床基地及吉林大学临床医院就诊的2694例男性患者（23～49岁），其中生精障碍组1332例、配偶不良妊娠组994例、不良生育组368例。G显带技术分析患者外周血染色体核型，PCR方法对检出的Y染色体异常患者行AZF微缺失检测。X2检验比较Y染色体异常在3组生殖异常中的发生率。结果检出Y染色体异常51例（1．89％，51／2694）：其中生精障碍组32例（2．40％，32／1332）、配偶不良妊娠组15例（1．51％，15／994）、不良生育组4例（1．09％，4／368）。X2检验比较Y染色体异常在3组之间的发生率，差异均无统计学意义（X2=3．895，P〉0．05）。51例Y染色体异常患者中检出AZF微缺失10例（19．61％，10／51），均为生精障碍患者。结论Y染色体异常在3组生殖异常中的发生率相近。对生殖异常男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因。（中华检验医学杂志，2013，36：50-52）Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure. Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province. Patients were divided into three groups： spermatogenic failure group （n = 1332 ）, disadvantage pregnancy outcomes group （ n = 994） and adverse birth outcomes group. All patients underwent chromosomal karyotype analysis （G-banding）. AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCIL The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups. Results Of the 51 cases of Y chromosome abnormalities （1.89%, 51/2694）, 32 were （2. 40%, 32/1332） in the spermatogenic failure group, 15 were （1.51%, 15/994） in disadvantage pregnancy outcomes group and 4 were （1.09%, 4/368 ） in adverse birth outcomes group. There was no significant difference in Y chromosome abnormalities among different groups （X2 = 3. 895 ,P 〉 0. 05 ）. AZF microdeletions were detected in 10 cases （ 19.61% , 10/51 ） of Y chromosome abnormalities patients with spermatogenic failure. Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar. Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure. （ Chin J Lab Med.2013 .36 ： 50-52 ）

关 键 词：染色体畸变 染色体 人 Y 不育 男(雄)性 

分 类 号：R691.1[医药卫生—泌尿科学]