新疆地区汉族、维吾尔族男性不育症与Y染色体微缺失关系的研究  

Xinjiang Han and Uygur Male infertility and Y chromosome loss relations research

作　　者：湃孜莱提.哈斯木 段玲[1] 韩锐[1] 武爽[1] 哈斯提牙尔.杰恩斯 叶尔登切切克 夏燕[1] 加米拉.热扎克 Paizilaiti Hasimu DUAN Ling HAN Rui WU Shuang Hasitiyaer Jieensi Yedengqieqieke XIA Yan Jiamila Rezhake.(The First Affiliated Hospital of Xinjiang Medical University Laboratory Prenatal Diagnosis Center, Urumqi 830011)

机构地区：[1]新疆医科大学第一附属医院产前诊断中心实验室,乌鲁木齐830011

出　　处：《中国优生与遗传杂志》2017年第1期38-40,22,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨检测男性不育症患者Y染色体微缺失的临床意义。方法引用多重聚合酶链反应(PCR)对门诊392例男性不育惠者行Y染色体AZFa、AZFb、AZFc、AZFd和SRY20个序列标签位点(STS)设计特异引物进行微缺失检测,同时进行精液常规检查。结果 392例男性不育患者中AZF基因微缺失患者共检出24例,总缺失率为6.12%,其中汉族无精子症组缺失率为6.19%,维吾尔族(以下简称维族)无精子症组缺失率为18.92%,汉族少精子症组缺失率为5.81%,维族少精子症组缺失率为16.67%,汉族弱精子症组缺失率为6.56%,维族弱精子症组缺失率为0%。汉、维族不育症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05);汉、维族无精子症患者Y染色体AZF微缺失率比较差异有统计学意义(χ~2=5.333,P=0.021),汉族与维族的Y染色体多位点联合缺失发生率比较差异有统计学意义(χ~2=4.168,P=0.041);汉、维族少精子症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05);汉、维族弱精子症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05)。结论汉、维族不育症男性患者中Y染色体AZF微缺失发生率存在种族差异,PCR检测AZF基因是诊断Y染色体AZF微缺失的较好的方法。Objective： To study the detection of male infertility patients lack of Y chromosome micro clinical significance. Methods： Multiple polymerase chain reaction （PCR） reference for outpatient service 392 cases of male infertility patients Y chromosome AZFa, AZFb, AZFc, AZFd and SRY20 sequence tags sites （STS） design specific primers for missing detection, semen routine checks at the same time. Results： 392 cases of male infertility patients AZF gene micro defect patients were detected in 24 cases, total loss rate was 6.12%, while the loss rate was 6.19%, no sperm group Uighur group （hereinafter referred to as the Uighur） no sperm loss rate was 18.92%, the Han nationality less sperm group loss rate was 5.81%, the Uighur less sperm group loss rate was 16.67%, the Han nationality weak sperm group loss rate was 6.56%, the lack of Uighur weak sperm group at a rate of 0%. Han and Uighur infertility patients with Y chromosome AZF micro missing rate differences had no statistical significance （P〉0.05） ; Sperm Han and Uighur Y-chromosome AZF micro missing rate difference was statistically significant （chi-square=5.333, P=5.333） , the absence of Y chromosome loci union of Han and Uighur rates compare the difference was statistically significant （chi-square=4.168, P=4.168） .Han and Uighur sperm less Y-chromosome AZF micro missing rate differences had no statistical significance （P〉0.05） ; Han and Uighur sperm weak Y chromosome AZF micro missing rate comparison difference has no statistical significance （P〉0.05） . Conclusions： In patients with Han and Uighur infertility male incidence of Y chromosome loss of AZF micro racial differences, PCR detection AZF gene is diagnosis Y-chromosome AZF micro lack good method.

关 键 词：Y染色体AZF微缺失 少精子症 无精子症 弱精子症 聚合酶链反应 

分 类 号：R698.2[医药卫生—泌尿科学]