Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the blood group antigen gene mutation database
Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the blood group antigen gene mutation database
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DOI：
10.1002/humu.10296
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发表时间：
2004-01-01
期刊：
影响因子：
3.9
通讯作者：
Patnaik, SK
中科院分区：
文献类型：
--
作者：
Blumenfeld, OO;Patnaik, SK
在本报告中，我们对血型抗原基因突变数据库（www.bioc.aecom.yu.edu/bgmut/index.htm）中收集的数据进行了分析，该数据库描述了与各种血清学确定的血型表型表达相关的人类基因的序列信息。该数据库记录了38个基因位点和总共624个等位基因，它们共同编码大量蛋白质，构成27个血清学定义的血型系统。对多个基因等位基因间序列变异模式的分析侧重于它们的分子特征，包括突变位点和重复性、重复基因家族中的基因重排模式、细胞外环中表位预测位置与改变位点的相关性，以及突变对蛋白质表达的影响。这些信息以及识别携带变异等位基因个体的相对容易性，导致有人提出编码血型抗原的基因是研究人类DNA变异的一种重要且独特的资源。另一个重点是编码抗原表位区域的突变以及它们在世界人群中的出现情况。这些突变可被视为编码单核苷酸多态性（cSNPs）。我们提出，其中一组已知在世界所有人群中都有显著频率出现的cSNPs，也可作为经过充分验证的遗传标记。此外，一些“低频率”和罕见等位基因中的特定突变可作为特定人群特有的cSNPs。这些突变的等位基因频率以及对它们在世界范围内出现情况的了解，为单核苷酸多态性数据库中记录的现有cSNP库增添了有价值的数据。（C）2003威利 - 利斯公司
In this report, we analyze data assembled in the Blood Group Antigen Gene Mutation Database (www.bioc.aecom.yu.edu/bgmut/index.htm), which describes sequence information on human genes associated with expression of the various serologically, determined blood group phenotypes. The database documents 38 genetic loci and a total of 624 alleles that together encode a large repertoire of proteins and constitute 27 serologically, defined blood group systems. Analysis of sequence variation patterns across alleles of a number of genes is focused on their molecular profiles, including mutational sites and recurrence, patterns of gene rearrangements in duplicated gene families, correlation of predicted location of epitopes in extracellular loops with sites of alterations, and effects of mutations on protein expression. That information, and the relative ease of identifying individuals bearing variant alleles, has led to the proposal that genes encoding blood group antigens are an important and unique resource for studies of human DNA variation. Another focus is on mutations in regions that encode the antigenic epitopes and on their occurrence in world populations. These mutations may be viewed as coding single nucleotide polymorphisms (cSNPs). We propose that one group of these cSNPs, which are known to occur with significant frequency in all world populations, could serve as well. validated genetic markers. In addition, specific mutations in a number of "low incidence" and rare alleles could serve as cSNPs specific for a given population. The allelic frequencies of these mutations and knowledge of their world,wide occurrence add a valuable dataset to the existing cSNP pools documented in SNP databases. (C) 2003 Wiley-Liss, Inc.