宁夏汉族群体Calpain-10基因SNP43、SNP19的分布特征

The distribution traits of calpain-10 gene SNP43 and SNP19 in Ningxia Han nationality

目的研究CAPN-10基因SNP43、SNP19在宁夏汉族群体中的基因型频率和等位基因频率分布特征。方法应用PCR-RFLP技术,对132例宁夏汉族人群CAPN-10基因SNP43、SNP19分布进行检测。结果宁夏汉族人群中CAPN-10 SNP43GG、GA、AA基因型频率分别为71.97%、24.24%和3.79%,G、A等位基因频率分别为84.09%和15.91%,GG基因型频率和G等位基因频率与北京、天津和云南汉族群体相近(P>0.05),低于辽宁、湖北和上海汉族群体,差异具有统计学意义(P<0.01)。SNP19 11、12、22基因型频率分别为18.94%、43.18%和37.88%,1、2等位基因频率分别为40.53%和59.47%,11基因型频率和1等位基因频率与与北京、上海汉族群体相近,差异无统计学意义(P>0.05)。与国外群体比较,中国人SNP43GG基因型频率和G等位基因频率低于亚洲的日本、韩国人群,高于欧洲高加索人及南美洲的智利和墨西哥人,差异具有统计学意义(P<0.01),不同国家人群SNP19位点11基因型频率和1等位基因频率差异无统计学意义(P>0.05)。结论不同种族和地域人群CAPN-10基因SNP43基因型频率和等位基因频率分布不同,具有其特有的群体遗传学特征。

Objective To study the distribution traits of allele and genotype frequencies of calpain - 10 gene （CAPN - 10） combined SNP43 and 19 in Ningxia Han nationality. Methods PCR - RFLP method was use to determine the distribution of allele and genotype frequencies of SNP43 polymorphism （G/A） and SNP19 （1/2） in the intron 3 of CAPN - 10 gene. Results The genotype frequencies of CAPN - 10 SNP43 GG, GA and AA were respectively 71.97% , 24.24% and 3.79% ; the frequency ＂G＂ and ＂A＂ allele were 84.09% and 15.91%. The genotype frequency of GG and the frequency ＂G＂ allele were similar to those in Beijing, Tianjin and Yunnan Han people （P 〉0.05）, but which significantly lower than those in Liaoning, Hubei and Shanghai Han people （P 〈0.01 ）. The genotype frequencies of CAPN - 10 SNP19 11, 12, 22 were respectively 18.94% ,43.18% and 37.88% ; the frequency ＂1＂ and ＂2＂ allele were 40.53% and 59.47%. The genotype frequency of 11 and the frequency ＂1＂ allele were similar to those in Beijing and Shanghai Han people （ P 〉 0.05 ）. Compared with that in other country people, the genotype frequency of SNP43 GG and ＂G＂ allele significantly lower than those in Japanese and Korean, but significantly higher than those in Chile and Mexico who were Caucasian （ P 〈0.01 ）. There had no significant difference in phenotype frequency of SNP19 11 and ＂1 ＂ allele among difference countries （P 〉0. 05 ）. Conclusions The difference distribution traits of genotype and allele frequencies in CAPN - 10 SNP43 shows us this single nucleotide polymorphism exist genetics characteristic in different ethnics.