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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。
In order to study the single nucleotide polymorphism (SNP) and haplotype frequency of the IgAIg MFc high affinity receptor (FCAMR / Fcα / μR) gene in the Han population of Northwest China. We used polymerase chain reaction (RT-PCR) direct sequencing to detect FCAMR, T549C (rs1856746), A457G (rs3813952), G421A (rs1340232) and A298G (Han) healthy unrelated individuals in 79 Northwest China rs3813950) 4 SNP sites for genotyping. The haplotype frequency of FCAMR gene was analyzed by SHEsis software. The frequency of allele C was 38.6% and T was 61.4% in T549C (rs1856746) locus of Han population in Northwest China. The frequency of allele G was 5.7% and A was 94.3% in A457G (rs3813952) The allele frequency A was 17.1%, G was 82.9%, the A298G (rs3813950) site was G421A (rs1340232). The allele frequency G was 4.4% and A was 95.6%. The three major haplotype frequencies (> 10%) T / A / G consisted of four loci of FCAMR gene T549C (rs1856746), A457G (rs3813952), G421A (rs1340232) and A298G (rs3813950) in Han population of Northwest China. / A is 60.5%, C / A / A / A is 17.1% and C / A / G / A is 16.7%. This study analyzed the genotype frequency, allele frequency and haplotype frequency of FCMR gene T549C (rs1856746), A457G (rs3813952), G421A (rs1340232) and A298G (rs3813950) SNPs in Han nationality in Northwest China. To provide a basis for the study of the association between single nucleotide polymorphisms in the FCAMR gene and the immune response and susceptibility to related diseases such as IgA nephropathy in this area.