西北地区汉族人群FCAMR基因单核苷酸多态性及单体型分析

The single nucleotide polymorphism and haplotype of FCAMR gene in the northwestern Han populations of China

为研究西北地区汉族人群IgAIg MFc高亲和力受体(Fc receptor IgAIg Mhigh affinity,FCAMR/Fcα/μR)基因单核苷酸多态性(SNP)及单体型的频率。我们采用聚合酶链反应后直接测序方法,对西北地区79(男45,女34)名没有亲缘关系的汉族健康个体FCAMR基因,T549C(rs1856746),A457G(rs3813952),G421A(rs1340232)和A298G(rs3813950)4个SNP位点进行基因分型。用SHEsis软件分析FCAMR基因的单体型频率。本研究发现西北地区汉族人群中T549C(rs1856746)位点,等位基因频率C是38.6%,T是61.4%;A457G(rs3813952)位点,等位基因频率G是5.7%,A是94.3%;G421A(rs1340232)位点,等位基因频率A是17.1%,G是82.9%,A298G(rs3813950)位点,等位基因频率G是4.4%,A是95.6%。西北地区汉族人群中FCAMR基因T549C(rs1856746)、A457G(rs3813952)、G421A(rs1340232)和A298G(rs3813950)4个位点构成的3种主要单体型率(频率>10%)T/A/G/A是60.5%,C/A/A/A是17.1%和C/A/G/A是16.7%。本研究分析了西北地区汉族人群FCAMR基因T549C(rs1856746)、A457G(rs3813952)、G421A(rs1340232)和A298G(rs3813950)4个SNP位点的基因型频率、等位基因频率和单体型频率,为研究该地区FCAMR基因单核苷酸多态性与免疫反应以及相关疾病如IgA肾病易感性之间的相关性提供研究基础。

To investigate the single nucleotide polymorphism and haplotype structure of Fc receptor IgA, IgM high affinity （FCAMR） genes T549C（rs1856746）, A457G （rs3813952）, G421A（rs1340232） and A298G（rs3813950） in the northwestern populations of China, the genotypes of these FCAMR genes were determined in 79 un-related northwestern Han healthy populations（45males and 34females） by using polymerase chain reaction and followed by sequeencing, and the frequency of haplotypes and linkage disequilibrium of FCAMR genes were analyzed by SHEsis programs. For the T549C（rs1856746） polymorphism, the frequency of C allele was found to be 38.6%, and the T allele was 61.4%, for A457G（rs3813952） polymorphism the frequency of G allele was 5.7%, A allele was 94.3%, for G421A（rs1340232） polymorphism the frequency of A allele was 17.1%, G allele was 82.9%, and for A298G（rs3813950） polymorphism, the frequency of G allele was 4.4%, and A allele was 95.6%. Three major haplotypes （defined as more than 10% occurrence for each）of T/A/G/A, C/A/A/A and C/A/G/A were observed in the northwestern Han populations, and the frequency of T/A/G/A was 60.5 %, C/A/A/A was 17.1% and C/A/G/A was 16.7%. This investigation appears to be the first study to demonstrate the polymorphism of the FCAMR genes T549C（rs1856746）, A457G（rs3813952）, G421A（rs1340232） and A298G（rs3813950） in northwestern Han populations. The genotype and haplotype analysis from these data may be used as a basis for the studies on the relationship between FCAMR genotypes and immune reactions or disease susceptibility, such as IgA nephropathy in northwestern Han populations of China.