贵州荔波水族人群CSF1PO,TPOX和TH01STR基因座遗传多态性

Genetic polymorphism of CSF1PO, TPOX and TH01 STR loci in Libo Shui population in Guizhou province

目的:调查贵州荔波水族人群CSF1PO,TPOX和TH01STR基因座的遗传多态性.方法:采集贵州省荔波县水尧水族乡97名水族无关个体EDTA抗凝血标本,Chelex-100法提取DNA,PCR进行扩增,变性聚丙烯酰胺凝胶电泳和银染方法进行分型,获取CSF1PO,TPOX和TH01STR基因座的基因型,基因频率及杂合度(H),多态信息量(PIC),个体识别率(DP)和非父排除率(PPE)等法医学相关数据,并利用该人群这3个STR基因座的基因频率与文献报道的广西侗族等南方其他6个民族群体相同基因座的基因频率进行聚类分析.结果:贵州荔波水族人群CSF1PO,TPOX和TH01STR基因座分别检出等位基因6,5和5个,基因型分别为15,12和13个,各基因座基因型分布均符合Hardy-Weinberg平衡定律(P>0.05).三个基因座的H分别为0.7287,0.5423,0.6904;PIC分别为0.6652,0.4880和0.6806;DP为0.8782,0.7361和0.8563;PPE为0.6148,0.3646和0.5737.结论:CSF1PO和TH01基因座在贵州荔波水族人群中有较高的遗传多态性,该人群与广西侗族等6民族群体间的遗传关系和民族学研究的结果基本吻合.

AIM： To investigate the genetic polymorphism of CSF1PO, TPOX and TH01 STR loci in Libo Shui population in Guizhou province. METHODS： Polymerase chain reaction （PCR） was used to amplify the EDTA-blood specimens collected from 97 unrelated Shui individuals in Shuiyao town, Libo County, Guizhou province. The PCR products were classified through denaturing polyacrylamide gel electrophoresis and silver staining to get genotype and gene frequency, as well as heterozygosity （ H）, polymorphism information content （PIC）, discrimination power （DP） and probabilities of paternity exclusion （PPE）. Gene frequency of CSF1PO, TPOX and TH01 STR loci in Libo Shui population and in other 6 minority populations was analyzed by fuzzy grouping analysis. RESULTS： 6, 5, 5 alleles and 15, 12, 13 genotypes were observed at CSF1PO, TPOX and TH01 respectively. The distribution of genotype of all the 3 loci met Hardy-Weinberg equilibrium （P 〉0.05）. The H of CSF1PO, TPOX and TH01 were 0. 7287, 0. 5423, and 0. 6904, PIC 0. 6652, 0.4880, and 0. 6806, DP 0. 8782, 0. 7361 and 0. 8563, PPE 0.6148, 0. 3646, and 0. 5737 respectively. CONCLUSION： CSF1PO and THO1 are of greater genetic polymorphism in Libo Shui population than TPOX, which indicates that the genetic relationship between Libo Shni population and other 6 minority populations in southwestern China is consistent with the result of ethnology investigation.