Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles.
Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles.
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DOI：
10.1155/2013/406209
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Kitano T
中科院分区：
文献类型：
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作者：
Itou M;Sato M;Kitano T
人类 ABO 血型基因由编码糖基转移酶的三个主要等位基因（A、B 和 O）组成。 A 和 B 等位基因在外显子 7 中存在两个关键氨基酸的差异，主要 O 等位基因在外显子 6 中具有单核苷酸缺失 (Δ261)。先前的进化研究表明 A 等位基因是最古老的，B 等位基因与 A 等位基因分离，在外显子 7 中具有两个关键氨基酸取代，而主要 O 等位基因在外显子 6 中与具有 Δ261 的 A 等位基因分离。网络分析研究表明，人类的A等位基因是通过B和O等位基因之间的重组而出现的。在之前的研究中，仅使用了来自两个人群的受限数据集。因此，在本研究中，我们使用了来自 HapMap 项目的大型单核苷酸多态性 (SNP) 数据集。结果表明，A101-A201-O09 单倍群是 B 和 O 单倍型之间的重组谱系，包含 B 等位基因的完整外显子 6 和主要 O 等位基因的外显子 7 中的两个关键 A 型位点。假设其重组点位于外显子 6 中的 Δ261 后面。
The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6. Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6. However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles. In the previous study, a restricted dataset from only two populations was used. In this study, therefore, we used a large single nucleotide polymorphism (SNP) dataset from the HapMap Project. The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele. Its recombination point was assumed to be located just behind Δ261 in exon 6.