Frequency and distribution in three ethnic populations of single nucleotide polymorphisms in the MICA gene

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI:10.1016/S1383-5726(00)00006-6

Edith Powell, Li Shi, Paul Drummond, Edward J. Smith

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引用次数: 1

Abstract

The Homo sapiens major histocompatibility complex (MHC) class 1 chain related gene A (MICA) was scanned for novel single nucleotide polymorphisms (SNPs) using a panel of DNA samples from African-, Japanese- and Mexican-Americans. Overlapping primer-pairs were used to amplify products in the size range of 300 to 400 bp that were sequenced and scanned for SNPs using Phred, Phrap, Polyphred and Consed sequence analysis programs. A total of 16 SNPs were detected, six of which represent new variant nucleotides in the Homo sapiens MICA gene. Three of the variants also represent amino acid changes in the MICA protein. Differences among the three ethnic panels in the frequency of the variant nucleotides observed were inconsistent, but significant for seven of the SNPs detected. Though a small sample size, this study represents the first multi-population based analysis of the frequency and distribution of SNPs in the MICA gene, a locus that may be essential in the antigenic recognition by γδ T cells.

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MICA基因单核苷酸多态性在三个民族人群中的频率和分布

利用一组来自非洲裔、日本裔和墨西哥裔美国人的DNA样本，对智人主要组织相容性复合体(MHC) 1类链相关基因A (MICA)进行了扫描，以寻找新的单核苷酸多态性(snp)。使用重叠引物对扩增300 - 400bp的产物，使用Phred、Phrap、Polyphred和Consed序列分析程序对产物进行测序和snp扫描。共检测到16个snp，其中6个代表智人MICA基因的新变异核苷酸。其中三种变异也代表了MICA蛋白中氨基酸的变化。在三个种族组中，观察到的变异核苷酸频率的差异不一致，但在检测到的7个snp中具有显著性。虽然样本量很小，但本研究首次基于多群体分析了MICA基因中snp的频率和分布，MICA基因可能是γδ T细胞抗原识别所必需的位点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Mutation Research/Mutation Research Genomics

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