染色体9p21-22区域两个新的SNPs位点在湖南汉族人群中的多态分布  

Polymorphism of two novel SNPs,which locate on chromosome 9p21-22, in Han Chinese of Hunan

作　　者：熊炜[1] 曾朝阳[1] 沈守荣[2] 李小玲[1] 吕红斌[1] 向娟娟[1] 聂新民[1] 朱诗国[1] 李伟芳[1] 王蓉[1] 贺林[3] 李桂源[1] 

机构地区：[1]中南大学湘雅医学院肿瘤研究所,长沙410078 [2]中南大学湘雅三医院消化内科,长沙410078 [3]上海交通大学Bio-X生命科学研究中心

出　　处：《中华医学遗传学杂志》2003年第3期203-206,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究发展规划(973)资助项目(G1 9980 51 0 0 8);国家高技术"863"计划资助项目(2 0 0 1 AA2 2 1 0 31 );国家自然科学基金资助项目 (30 1 0 0 0 2 7)~~

摘　　要：目的　在人类染色体 9p2 1- 2 2区域克隆的两个候选抑瘤基因 NGX6和 UBAP1以及该区域另一个已知抑瘤基因 CDKN2 A中筛查未知的单核苷酸多态 ( single nucleotide polymorphisms,SNPs)。方法　用 96名正常人外周血白细胞基因组 DNA在 3个基因的外显子及基因上下游调控区中逐段 PCR扩增、大规模测序。结果　在 UBAP1基因第 6外显子及 CDKN2 A基因第 4外显子中各发现一个新的 SNP位点 ,db SNP登录号为 rs3135 92 9和 rs30 884 4 0 ,其多态信息含量分别为 0 .10 2和 0 .2 13。两个 SNPs之间不存在连锁不平衡 ,单倍型分析表明两个 SNPs联用 ,其多态信息含量可达到 0 .30 2。结论　多个 SNP联用 ,其多态信息含量明显提高 ,可克服 SNPs信息量不足的弱点 ;两个 SNPs均位于基因的 3′非翻译区 。Objective: To search novel SNPs in exons and regulatory regions of CDKN2A and two novel putative tumor suppressor genes NGX6 and UBAP1, which all reside on chromosome 9p21-22. Methods: The exons and regulatory regions of those genes were amplified and sequenced in 96 subjects. Results: Two novel SNPs were found, one resides on the sixth exon of UBAP1 gene and the other on the fourth exon of CDKN2A gene. Two novel SNPs were submitted to the dbSNP database, and their access ID are rs3135929 and rs3088440. The polymorphic information contents of them are 0. 102 and 0. 213 respectively. There is linkage equilibrium between them, and the polymorphic information content of their haplotype is 0. 302, higher than any of them individually. Conclusion: The polymophic information content can be improved by using haplotype analysis of several SNPs.

关 键 词：染色体9p21-22区域 抑瘤基因 NGX6 UBAPl CDKN2A 筛查 单核苷酸多态 湖南 汉族人群 

分 类 号：R394[医药卫生—医学遗传学]