中国人群中C6orf37第二外显子VNTR多态性的研究  

VNTR polymorphism of C6orf37 in Chinese population

作　　者：崔晶[1] 王炜[1] 王敏[1] 林洁[1] 马裕[1] 阮文静[1] 徐静[1] 来茂德[1] 

机构地区：[1]浙江大学医学院病理研究所,浙江杭州310031

出　　处：《浙江大学学报（医学版）》2006年第4期354-359,共6页Journal of Zhejiang University(Medical Sciences)

基　　金：国家自然科学基金项目(30370636;30371605)

摘　　要：目的:证实C 6orf 37编码区VNTR位点,检测其多态性在中国人群中的分布特点,并寻找VNTR多态性检测的理想方法。方法:用RT-PCR及测序证实C 6orf 37编码区的VNTR位点,并用SSLP和DHPLC两种方法对166例中国人进行VNTR基因分型。结果:C 6orf 37基因的第二外显子区存在一个新的VNTR多态性位点,其核心序列为GGCGGCGACTTCGGC,编码5个氨基酸(G-G-D-F-G),重复3到5次。该位点存在3种等位基因:a(3次重复),b(4次重复),c(5次重复),6种基因型:a/a,b/b,c/c,a/b,a/c,b/c。在中国人群中的a、b、c等位基因频率分别为0.145,0.304,0.551。杂和度为0.583,多态信息含量为0.510。DHPLC与SSLP检测VNTR多态性的结果一致,但DHPLC具有快速、经济、高通量的特点。结论:C 6orf 37编码区存在一个高度多态性VNTR位点,DHPLC是大规模筛选VNTR多态性的理想方法。Objective： To identify a novel VNTR in C6orf37 and to detect the C6orf37 VNTR polymorphism distribution in Chinese population. Methods： RT-PCR and sequencing were conducted to identify VNTR alleles in the variable region of C6orf37. SSLP and DHPLC were applied in detecting the VNTR genotypes in 166 Chinese individuals. Results： A novel VNTR sequence was found in the second exon of C6orf37,which was composed of 15 base pairs encoding 5-amino-acid （G-G-D-F-G）. The repeat times ranged from 3 to 5. There were three/common alleles containing three repeats （a）, four repeats （b） and five repeats （c）, respectively, which produced three homozygotes （a/a,b/b and c/c） and three heterozygotes （a/b,a/c and b/c）. The frequency of a, b, c alleles were 0. 145, 0. 304, 0. 551, respectively in Chinese population. Heterozygosity （H） was 0. 583. Polymorphism information content （PIC） was 0. 510. The screened result of DHPLC was consistent with that of SSLP. Conclusion： A novel highly polymorphic VNTR in C6orf37 exists in Chinese population. DHPLC is the most efficient technique for screening VNTR polymorphism.

关 键 词：等位基因 多态现象 遗传 变性高压液相色谱 VNTR C6orf37 聚合酶链反应-单链长度多态性 中国人群 

分 类 号：R394[医药卫生—医学遗传学]