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采用等位基因特异性寡核苷酸探针测定人类FcγRIIA等位基因多态性频率的种族差异。

Ethnic variation in frequency of an allelic polymorphism of human Fc gamma RIIA determined with allele specific oligonucleotide probes.

作者信息

Osborne J M, Chacko G W, Brandt J T, Anderson C L

机构信息

Department of Internal Medicine, Ohio State University College of Medicine, Columbus 43210.

出版信息

J Immunol Methods. 1994 Aug 1;173(2):207-17. doi: 10.1016/0022-1759(94)90299-2.

Abstract

We have genotyped 53 individuals from three ethnic groups (Japanese, Chinese, Asian Indian) for an allotypic polymorphism of a widely expressed low affinity Fc receptor for IgG (Fc gamma RIIA). The method, requiring PCR amplification of genomic DNA and Southern analysis with allele specific oligonucleotide probes, detects a single nucleotide difference (G or A) at base 494 which results in an arginine (R) or histidine (H) at amino acid 131 of the Fc gamma RIIA protein. This polymorphism has been shown to determine the affinity of the receptor for hIgG2; Fc gamma RIIA-H131 has a high affinity for hIgG2, while Fc gamma RIIA-R131 binds hIgG2 weakly. We found that the Japanese and Chinese groups have an increased frequency of the H/H131 allotype (61 and 50% respectively) as compared to the Caucasian group (23%), in agreement with previously reported phenotype data. The genotype distribution of the Asian Indian group was not different from our Caucasian group. The shifts in frequency of the R131 and H131 alleles in different populations may have implications for disease susceptibility when the hIgG2 antibody isotype predominates.

摘要

我们对来自三个种族群体(日本人、中国人、亚洲印度人)的53名个体进行了基因分型,以研究一种广泛表达的低亲和力IgG Fc受体(FcγRIIA)的同种异型多态性。该方法需要对基因组DNA进行PCR扩增,并使用等位基因特异性寡核苷酸探针进行Southern分析,可检测到第494位碱基处的单个核苷酸差异(G或A),这导致FcγRIIA蛋白第131位氨基酸为精氨酸(R)或组氨酸(H)。这种多态性已被证明可决定该受体对人IgG2的亲和力;FcγRIIA-H131对人IgG2具有高亲和力,而FcγRIIA-R131与人IgG2的结合较弱。我们发现,与白种人群体(23%)相比,日本人和中国人群体中H/H131同种异型的频率增加(分别为61%和50%),这与先前报道的表型数据一致。亚洲印度人群体的基因型分布与我们的白种人群体没有差异。当人IgG2抗体亚型占主导时,不同人群中R131和H131等位基因频率的变化可能对疾病易感性有影响。

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