贵州布依族、侗族、苗族TTTY5、TSPY1、TSPY4基因拷贝数多态分析  

Analysis of Gene Copy Number Polymorphism for TTTY5,TSPY1 and TSPY4 in Buyi,Dong and Miao Nationality of Guizhou Province

作　　者：李林洁[1,2] 何燕[1] 单可人[1] 官志忠[1] 杨明[1] 

机构地区：[1]贵州医科大学分子生物学重点实验室,贵州贵阳550004 [2]贵阳市妇幼保健院优生遗传科,贵州贵阳550001

出　　处：《贵阳医学院学报》2016年第9期1006-1009,共4页Journal of Guiyang Medical College

基　　金：国家自然科学基金项目(No.31560306);贵州省社会发展科技攻关项目[黔科合SY(2012)3135号];贵州省"2011协同创新中心"[黔教合协同创新中心(2014)06号]

摘　　要：目的：研究贵州省布依族、侗族及苗族人群Y染色体的睾丸特异转录基因（TTTY5）、Y染色体睾丸特异编码蛋白1（TSPY1）和Y染色体睾丸特异编码蛋白4（TSPY4）基因的拷贝数多态性。方法：采集292例男性少数民族（布依族、侗族、苗族）血液,通过实时荧光定量PCR法检测TTTY5、TSPY1及TSPY4基因的相对拷贝数,观察TTTY5、TSPY1及TSPY4基因拷贝数在布依族、侗族及苗族人群中的分布。结果：在贵州布依族、侗族、苗族的292人中,TTTY5、TSPY1及TSPY4拷贝数分布范围分别为1~39拷贝、1~68拷贝及1~39拷贝;除苗族和侗族的TTTY5拷贝数外,TTTY5、TSPY1及TSPY4拷贝数在贵州布依族、侗族、苗族间比较,差异有统计学意义（P〈0.01）。结论：TTTY5、TSPY1及TSPY4基因拷贝数在贵州布依族、侗族、苗族人群中分布不一,各民族均有各自的拷贝数分布特点。Objective： To investigate gene copy number polymorphism of testis-specific gene tran- script of Y chromosome （ TTTY5 ）, testis-specific protein Y-encoded 1 （ TSPFI ） and testls-specific protein Y-encoded 4 （TSPY4） in Buyi Nationality, Dong nationality and Miao nationality of Guizhou Province. Methods： The blood of 292 cases of male ethnic minorities （ Buyi, Dong, Miao） was col- lected. Real-time fluorescent quantitative PCR was adopted to detect relative copy number of TTTYS, TSPY1 and TSPY4 genes. Distribution and difference of copy number of TTTY5, TSPY1 and TSPY4 genes were observed in Buyi, Dong and Miao nationalities. Results ： In total 292 cases, the copy num- ber range of TTTYS, TSYP1 and TSPY4 gene were 1 - 39 copies, 1 - 68 copies and 1 - 39 copies in Buyi, Dong and Miao nationalities, respectively. Except for TTTY5 gene copy numbers of Miao and Dong nationality, there were statistically significant differences in the distribution of copy numbers a- mong Buyi, Dong and Miao nationality （ P 〈 0. 01 ）. Conclusions： TTTYS, TSPY1 and TSPY4 gene copy number distribution is not consistent in Buyi, Dong and Miao nationality of Guizhou Province, and each nationality has its own copy number distribution characteristics.

关 键 词：少数民族 Y染色体 睾丸 基因 拷贝数多态 贵州 

分 类 号：R394[医药卫生—医学遗传学] R273[医药卫生—基础医学]