3号染色体短臂上八个短串联重复序列位点的遗传多态性研究  

Genetic polymorphism of 8 STR loci on shortarm of chromosome 3

作　　者：熊炜[1] 曾朝阳[1] 熊芳[2] 沈守荣[3] 李小玲[1] 李伟芳[1] 王蓉[1] 范松青[1] 杨一新[1] 周厚德[1] 周鸣[1] 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]中南大学湘雅医院信息科,长沙410078 [3]湘雅三医院消化内科

出　　处：《中华医学遗传学杂志》2003年第5期413-416,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"86 3"计划资助项目 ( 2 0 0 1 AA2 2 1 0 31 );国家自然科学基金( 30 1 0 0 0 2 7)

摘　　要：目的　研究湖南汉族人群 8个位于染色体 3 p区域的短串联重复序列 (short tandem repeat,STR)位点 :D3 S12 97、D3 S14 89、D3 S12 66、D3 S1568、D3 S12 89、D3 S13 0 0、D3 S12 85和 D3 S3 681基因型及等位片段频率分布。方法　随机抽取 2 2 5名湖南汉族无关个体静脉血 ,抽提 DNA,复合 PCR技术扩增上述位点 ,ABI 3 77全自动测序仪进行基因分型。结果　共检出 91种等位基因 ,基因频率分布在 0 .0 0 2～ 0 .43 1之间 ,构成 3 12种基因型。 8个 STR位点基因型分布均符合 Hardy-Weinberg平衡 (P>0 .0 5) ,杂合度大于0 .72 9,个体识别力大于 0 .72 5,非父排除率大于 0 .596,多态信息含量大于 0 .682。民族比较结果显示 ,湖南汉族与非洲黑人及欧洲白人在大多数位点差异有显著性 (P<0 .0 0 1)。Objective: To get the genotype and allele frequency distributions of 8 short tandem repeat (STR) loci on chromosome 3p (D3S1297, D3S1489, D3S1266, D3S1568, D3S1289, D3S1300, D3S1285 and D3S3681) in Chinese Han population in Hunan area. Methods: Blood samples were collected from the random Han individuals in Hunan and the whole genomic DNA was extracted. STR loci were amplified by multiplex-PCR technique and genotyped by ABI 377 sequencer. Results: Ninety-one alleles were detected, with frequencies ranging from 0.002 to 0.431, and these alleles constituted 312 genotypes. All the 8 loci met Hardy-Weinberg equilibrium. The statistical analysis of 8 STR loci showed the heterozygosity (H) ≥ 0.729, the discrimination power (DP ≥ 0.725, the probabilities of paternity exclusion (PPE) ≥ 0.596, and the polymorphic information content (PIC ≥ 0.682). The result indicated that there was a significant difference between Han ethnic group and the white and the black. Conclusion: These results could serve as valuable data to enrich the Chinese genetic database and play an important role in Chinese population genetic and forensic medical application.

关 键 词：3号染色体 短臂 遗传多态性 短串联重复序列 STR 基因频率 汉族 

分 类 号：R394[医药卫生—医学遗传学]