Molecular genetics of glycophorin MNS variants
Molecular genetics of glycophorin MNS variants
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DOI：
10.1016/s1246-7820(97)80041-9
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发表时间：
1997-01-01
影响因子：
1.7
通讯作者：
Huang, CH
中科院分区：
文献类型：
--
作者：
Blumenfeld, OO;Huang, CH
MNS血型系统的抗原是血型糖蛋白A和B（GPA，GPB），GPA基因家族的产物。血清学分析表明该血型系统存在近40种变异表型，本文总结了大量变异的分子基础，包括Miltenberger复合体的所有变异和St（a）的几种亚型，以及Dantu、Sat、He、M-g和En（a）、S-s-U-和M-k缺失变异。这种多样性主要基于基因重组，即不相等的同源重组和/或基因转换，通常与前体mRNA剪接相结合。大多数重排发生在GPA和GPB等位基因之间，并且仅限于编码胞外结构域的4kb区域内的热点。GPE是基因家族的第三个成员，其同源区很少被涉及，变异表位的位点被定位到新的外显子内和外显子间连接处，或者定位到重组后表达的先前沉默序列的补丁上。
The antigens for the MNS blood group system are Glycophorins A and B (GPA,GPB), products of the GPA gene family. The existence of close to 40 variant phenotypes of this blood group system has been documented by serological analyses.Here is summarized the molecular basis for a large number of variants, including all the variants of the Miltenberger complex and several isoforms of St(a); also, Dantu, Sat, He, M-g, and deletion variants En(a), S-s-U- and M-k. The diversity is based predominantly on gene recombinations, namely unequal homologous recombinations and/or gene conversions, often coupled to pre-mRNA splicing. Most rearrangements occurred between GPA and GPB alleles, and were confined to hot-spots within the 4 kb region coding for the extracellular domain. The homologous region in GPE, the third member of the gene family, was involved only rarely.Sites of the variant epitopes are mapped to new intra-and inter-exon junctions or to patches of previously silenced sequences that become expressed following recombination.