摘要
目的探讨补体受体Ⅰ型(CR1)基因多态性在云南彝族人群中的分布特点并比较不同人群间的差异。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和DNA测序技术检测216例云南彝族样本中CR1基因的Exon22(rs2274567),Intron27(rs11118133)和Exon33(rs3811381)多态性位点的基因型,并与千人基因组计划中的人群数据进行比较。结果云南彝族人群中CR1基因Exon22、Intron27、Exon33这3个多态性位点的主要基因型和频率分别为AG41.2%,AA56.9%,CG47.7%。云南彝族与国内外各人群比较:在国内外人群的3位点分布频率数据中,北京汉和非洲人、欧洲人是以非突变基因型(Exon22为AA,Intron27为AA,Exon33为CC)为主,而南方汉、傣族和印度人以突变基因型(Exon22为AG+GG,Intron27为AT+TT,Exon33为CG+GG)为主。彝族的3个多态性位点中,突变率依次递增为Intron27、Exon22、Exon33,Intron27、Exon22位点基因型分布频率与南方汉比较无统计学差异(P分别为0.274、0.177),Exon33与傣族、印度人无差异(P分别为0.409,0.475)。单倍型以AAG、GTG为主。结论云南彝族CR1基因Exon22、Intron27和Exon33存在多态性,三位点分布频率基因型分布频率提示彝族与南方汉、西双版纳傣族、印度人有更近的亲缘关系,单倍型分布具有自身特点,可能与疟疾自然选择压力、种族基因差异等相关,对红细胞相关免疫性疾病的群体分布研究有重要意义。
Objective：To investigate the genetic polymorphism of complement receptor typeⅠgene of Yi ethnic groups in Yunnan and compare with other groups people in the world. Methods：By using PCR-RFLP and DNA sequencing technology,the genotypes of three polymorphic loci which site in CR1 gene,including Exon22（3650AG,rs2274567）,Intron27（HindⅢAT,rs11118133）and Exon33（5507CG,rs3811381）,had been detected in 216 Yi individuals. And we analyzed and compared with the data of other groups people which come from 1000 genomes project. Results：The data of three loci of Yi ethnic group：In Exon 22,AG was found to be the most common genotype with frequency of 41.2%;in Intron27,the most common genotype was AA,with frequency of 56.9%;in Exon33 was CG,with frequency of 47.7%. Compared with other groups：all of three polymorphism locus,the non-mutation genotypes（Exon 22 was AA,Intron27 was AA and Exon33 was CC）were main genotypes in Beijing Han,African and European,while in Southern Han,Dai ethnic group and Indian were the mutation genotypes（Exon 22 was AG＋GG,Intron27 was AT＋TT and Exon33 was CG＋GG）.Compared with Southern Han,the genotype distribution frequency of both Intron27 and Exon22 had no statistical difference（P= 0.274 and P= 0.177）in Yi people. The genotype distribution frequency of Exon33 was similar with Dai ethnic group and Indian in statistic（P=0.409 and P=0.475）. The most prevalent haplotypes were AAG,GTG. Conclusion：Exon22,Intron27 and Exon33 in CR1 gene of Yi ethnic group were polymorphic,the distribution frequency of all three loci maybe prompt that Yi people have closer genetic relationship with Southern Han,Dai ethnic group and Indian. The haplotypes of Yi ethnic group have its own characteristics,it could be related to natural selection pressure of malaria,gene difference of human race and so on. In a way it is significant for us to study the different distribution of immune diseases related to red blood cells in different groups.
出处
《中国优生与遗传杂志》
2016年第9期4-7,3,共5页
Chinese Journal of Birth Health & Heredity
基金
云南省高层次卫生技术人才培养专项经费资助(编号:D-201218)
云南省应用基础研究计划重点项目(编号:2013FA023)
关键词
补体受体Ⅰ型
遗传多态性
少数民族
Erythrocyte complement receptor typeⅠ
Genetic polymorphism
Ethnic minorities
