摘要
目的分析陕西汉族人群中2号染色体上8个短串联重复序列(shorttandemrepeat,STR)基因座的多态性。方法采用荧光标记基因扫描对2号染色体上的D2S112、D2S162、D2S2330、D2S2216、D2S347、D2S259、D2S319和D2S168基因座的遗传多态性进行分析。结果D2S112、D2S162、D2S2330、D2S2216、D2S347、D2S259、D2S319和D2S168基因座分别检出7、11、9、8、9、9、8和13个等位基因,15、33、23、18、13、12、25和33个基因型,等位基因型分布符合Hardy-Weinberg平衡(P>0.05)。其杂合度分别为0.6985、0.8274、0.8042、0.6816、0.6541、0.5213、0.8432和0.8091;多态信息含量分别为0.6911、0.8199、0.7891、0.6809、0.6388、0.5187、0.8372和0.8049。结论2号染色体上的这8个STR基因座在汉族人群中有高的杂合度和多态信息量,是理想的遗传标记物。
Objective To analyze the genetic polymorphism of 8 short tandem repeat （STR） loci on human chromosome 2 in Chinese Han population in Shaanxi Province. Methods Blood samples anticoagulated with EDTA were collected from 176 unrelated Chinese Han individuals in Shaanxi Province. The DNA was extracted for PCR amplification of the relevant fragments, and the amplified products were analyzed using the ABI 3730 Genetic Analyzer. Results On human chromosome 2, the loci D2S112, D2S162, D2S2330, D2S2216, D2S347, D2S259, D2S319 and D2S168 had 7, 11, 9, 8, 9, 9, 8 and 13 alleles, respectively, with 15, 33, 23, 18, 13, 12, 25 and 33 genotypes for the corresponding alleles. The genotype distribution of all the 8 loci met Hardy-Weinberg equilibrium. The heterozygosities for the 8 STR loci were 0.6985, 0.8274, 0.8042, 0.6816, 0.6541, 0.5213, 0.8432 and 0.8091, with polymorphic information content of0.6911, 0.8199, 0.7891, 0.6809, 0.6388, 0.5187, 0.8372 and 0.8049, respectively. Conclusion The 8 loci on chromosome 2 have high heterozygosity and polymorphic imformation content in Chinese Han population, suggesting their value as useful genetic markers.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2007年第11期1685-1687,共3页
Journal of Southern Medical University
基金
国家自然科学基金(30371252)~~
