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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 distribution of complement receptor type 1 (CR1) gene polymorphism in Yunnan Yi people and to compare the differences among different populations. Methods The polymorphisms of Exon22 (rs2274567), Intron27 (rs11118133) and Exon33 (rs3811381) of CR1 gene in 216 Yunnan Yi samples were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing Site genotypes and compared with population data from the Thousands Genome Project. Results The major genotypes and frequencies of CR1 gene Exon22, Intron27 and Exon33 in Yunnan Yi population were AG41.2%, AA56.9% and CG47.7%, respectively. Comparison of Yunnan Yi nationality and other populations at home and abroad: Beijing Han and Africans and Europeans are non-mutated genotypes (Exon22 is AA, Intron27 is AA and Exon33 is CC) While the Han, Dai and Indians in the South mainly mutated genotypes (Exon22 for AG + GG, Intron27 for AT + TT, Exon33 for CG + GG). Among the three polymorphic loci in Yi population, the mutation frequency increased in sequence as the distribution frequency of Intron27, Exon22, Exon33, Intron27 and Exon22 genotypes was not significantly different from that of Southern Han (P 0.274 and 0.777, respectively) Dai, Indians no difference (P respectively 0.409,0.475). Haplotypes are AAG and GTG. Conclusion The CR1 gene Exon22, Intron 27 and Exon33 of Yi ethnic group in Yunnan Province are polymorphic. The distribution frequency of the three loci indicates that the Yi ethnic group has a closer genetic relationship with the Dai and Indians in southern Han and Xishuangbanna. The haplotype distribution has its own characteristics, May be related to the pressure of natural selection of malaria, differences in racial genes and so on, and is of great significance for studying the population distribution of erythrocyte-related immune diseases.