摘要
目的:调查河南汉族人群中DNA遗传标记-6个短串联重复序列的基因多态性。方法:调查于2004-12/2005-06进行。采集85份无关个体抗凝血样本,均为3代以上居住于河南省的汉族群体,所有受试者均签署知情同意书。应用聚合酶链反应和变性聚丙烯酰胺凝胶电泳及银染技术检测结果。统计D2S1338,D3S1358,D5S819,D8S1178,D13S317和D18S51等6个短串联重复序列的等位基因的基因频率,用SPSS11.0软件包对基因型分布作χ2检验,检测是否符合Hardy-Weinberg平衡。根据所得基因频率和基因型频率,分别计算各基因座反映遗传标记的多态性程度及其应用价值的杂合度、个人识别能力、非父排除率和多态性信息值(一般杂合度高,个人识别能力>0.8、非父排除率>0.5,多态性信息量>0.5,属于高度多态性遗传标记,具有高度的可提供信息量)。结果:85人的数据全部进入结果分析。①得到D2S1338,D3S1358,D5S819,D8S1178,D13S317和D18S51等6个基因座各等位基因的基因频率范围分别为0.008～0.072,0.008～0.258,0.008～0.154,0.008～0.096,0.008～0.117,0.008～0.138,经检验,基因型频率分布符合Hardy-Weinberg平衡(P>0.05)。②6个短串联重复序列基因座平均杂合度>0.7、个人识别能力>0.8、非父排除率>0.5、多态性信息量>0.7。结论:此6个短串联重复序列基因座具有具有较高的杂合度和多态性信息含量,是较理想的遗传标记。
AIM： To investigate the genetic polymorphism of 6 short tandem repeat （STR） loci of the DNA genetic markers in people of Han nationality in Henan Province.
METHODS： The investigation was conducted between December 2004 and June 2005. Anticoagulant specimens of 85 unrelated individuals of Han population in Henan were collected. All the people were Han groups lived in Henan for three generations above and signed the agreement. The results were detected by the polymerase chain reaction and denatured polyacrylamide gel electrophoresis with silver staining methods. The gene frequencies of allelic genes of 6 STR were counted including D2S1338, D3S1358, D5S819, D8S1178, D13S317 and D18S51, and the allelic frequency distributions of 6 STR loci were explored with the X^2 test by the SPSS 11.0 package to verify whether it met the Hardy-Weinberg equilibrium. The polymorphism degree of genetic markers reflected by each locus and the applied values in heterozygesity （H）, discrimination power （DP）, probability of paternity exclusion （PPE） and polymorphism information content （PIC） were calculated according to the gene frequencies and genotype frequencies （high H, DP 〉 0.8, PPE 〉 0.5, PIC 〉 0.5 were the characteristics of high polymorphism genetic markers with high available information content）.
RESULTS： All the statistics of the 85 individuals were entered the result analysis. ①The aUelic frequencies of the 6 loci were 0.008-0.072, 0.008-0.258, 0.008-0.154, 0.008-0.096, 0.008-0.117, and 0.008- 0.138, meanwhile, the genotypo distributions were accorded with the Hardy-Weinberg equilibrium （P 〉 0.05）. ②In the 6 STR loci, the mean H was 〉 0.7, DP 〉 0.8, PPE 〉 0.5 and PIC 〉 0.7.
CONCLUSION： The 6 STR loci have higher H and PIC, which are satisfactory genetic markers.
出处
《中国临床康复》
CAS
CSCD
北大核心
2006年第17期128-130,共3页
Chinese Journal of Clinical Rehabilitation
