新疆地区维吾尔族和汉族男性不育患者Y染色体无精子症因子微缺失分析  

Analysis of azoospermia factor on Y chromosome in infertile men From Uyghur and Han nationality in Xinjiang

作　　者：韩锐[1] 段玲[1] 王晓岚[1] 湃孜莱提.哈斯木 HAN Rui DUAN Ling WANG Xiao-lan Paizilaiti Hasimu(Experimentation room of Diagnoses Center before Childbearing of The First Affiliated Hospital of XinJiang Medical University , XinJiang 830054 Chin)

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,新疆乌鲁木齐830054

出　　处：《中国优生与遗传杂志》2017年第4期124-125,13,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的评估新疆地区汉族、维吾尔族不育男性不明原因无精子症和严重少弱精子症患者Y染色体AZF基因微缺失的频率,探讨不同民族间Y染色体AZF基因微缺失发生率的差异。方法以Y染色体无精子因子(AZF)区20个序列标签位点(STS)设计特异引物,采用多重PCR方法对449例(汉族347例,维吾尔族102例)不育男性患者进行Y染色体无精子因子(AZF)区微缺失检测,并比较不同民族的患者Y染色体无精子因子(AZF)区微缺失发生率的差异。结果 347例汉族患者中有11例(3.17%)存在Y染色体无精子因子(AZF)区微缺失,102例维吾尔族患者检出10例(9.80%)存在Y染色体无精子因子(AZF)区微缺失,在所有被检出有Y染色体无精子因子(AZF)区微缺失的患者中AZF区联合缺失19例(90.47%)。其中AZFb区缺失(100%)最常见,其次为AZFc区缺失(71.4%);AZFa区缺失(23.8%)和SRY基因的缺失(19.05%)。汉族患者与维吾尔族患者Y染色体无精子因子(AZF)区微缺失率(χ2=7.781,P=0.005)及AZF多位点联合缺失发生率差异(χ2=6.867,P=0.009)均有统计学意义(P<0.05)。结论无精子症和严重少弱精子症不育男性患者中Y染色体无精子因子(AZF)区微缺失发生率及AZF多位点联合缺失发生率存在民族差异,PCR检测AZF基因是诊断Y染色体无精子因子(AZF)区微缺失的较好的方法。0bjective：To evaluate the frequency of microdeletions of azoospermia factor on Y chromosome in infertile men with azoospermia and oligospermia From Uyghur and Han nationality in Xinjiang and to investigate the difference of Y microdeletion frequencies between two nations. Methods：According to the sequence of sequence-tagged sits（STS）AZFa,AZFb and AZFc 3 of the azoospermic factor regiongs in Y chromosome long-term supplied by Gen Bank,20 sets of primers were synthesized.The Y microdeletions in AZF regions were screened by polymerase chain reaction（PCR）in 449 patients（the Han nationality 347,the Uyghur nationality 102）with idiopathic azoospermia and oligospermia. The frequency of microdeletions of azoospermia factor on Y chromosome in two ethnic groups were comparied too. Results：The microdeletions of AZF was found in 11 of 347 patiens（3.17%）of the Han nationality and 10 of 102 patients（9.80%）of the Uyghur nationality with idiopathic azoospermic.A total of 19 patients（90.47%）had multiple sites deletion.There was significant difference between the two ethnic groups（P〈0.05）.Among 3 STS,deletions of the AZFb region of the Y chromosome were the most common（100%）,next was AZFc region（71.4%）,the deletions of AZFa region（23.8%）and the deletions of SRY region（19.05%）were the least common.There are significant difference between the frequency of single deletion（χ2=7.781,P=0.005）and multiple site deletion（χ2=6.867,P=0.009）in two ethnic groups. Conclusion：There are significant different variabilities in the frequencies of microdeletions in azoospermia oligospermia patients and the frequency of multiple sites deletion on Y chromosome between the two nationalities.PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y chromosome.

关 键 词：无精子症因子 Y染色体微缺失 少精子症 聚合酶链反应 

分 类 号：R698.2[医药卫生—泌尿科学]