Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles
Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles
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DOI：
10.1111/j.1399-0039.2004.0175.x
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发表时间：
2004-03-01
期刊：
影响因子：
--
通讯作者：
Inoko, H
中科院分区：
文献类型：
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作者：
Hui, J;Oka, A;Inoko, H
通过对10个IHW样本组中7个不同纯合分型细胞进行直接测序，研究C4基因的核苷酸多态性。在C4基因的C4d区域内鉴定了两个新序列。我们的测序分析扩展了以前的研究结果表明，重组热点很可能发生在C4d区域内的密码子位置1157和1186之间。遗传学上定义的C4 A和C4 B等位基因的分类可以通过测序进一步分型。由于携带C4基因的各种拷贝的中央主要组织相容性复合体区域与一系列疾病相关;在C4基因座内的序列水平上的进一步分析可以为疾病相关多态性的调查提供信息性遗传标记。
Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.