扩展的HLA/补体等位基因单倍型：人类中T/t样复合体的证据。
Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man.
作者信息
Awdeh Z L, Raum D, Yunis E J, Alper C A
出版信息
Proc Natl Acad Sci U S A. 1983 Jan;80(1):259-63. doi: 10.1073/pnas.80.1.259.
Abstract
The chromosomal distribution of alleles for HLA-A,-B,-C, and -DR and the serum complement protein alleles of factor B and C2 and C4 was studied in normal Caucasian families. Eight combinations of HLA-B, DR, BF, C2, C4A, and C4B markers were found to occur in haplotypes at frequencies significantly higher than expected. In these combinations, which were defined as extended major histocompatibility complex haplotypes, HLA-A showed limited variation. A possible mechanism for the maintenance of extended haplotypes are human analogs of murine t mutants which are characterized by crossover suppression and male transmission bias. One human 6p haplotype, HLA-B8, DR3, SCO1, GLO 2, was found to be transmitted from males to 83% of their offspring. The same haplotype with GLO 1 had no transmission bias. It is suggested that this GLO 2-marked chromosome is a human analog of a murine t mutant.
摘要
在正常白种人家庭中研究了HLA - A、- B、- C和 - DR等位基因以及补体蛋白B因子、C2和C4等位基因的染色体分布。发现HLA - B、DR、BF、C2、C4A和C4B标记的八种组合以显著高于预期的频率出现在单倍型中。在这些被定义为扩展主要组织相容性复合体单倍型的组合中，HLA - A显示出有限的变异。维持扩展单倍型的一种可能机制是小鼠t突变体的人类类似物，其特征是交叉抑制和雄性传递偏向。发现一种人类6p单倍型HLA - B8、DR3、SCO1、GLO 2从雄性传递给83%的后代。具有GLO 1的相同单倍型没有传递偏向。有人提出这种由GLO 2标记的染色体是小鼠t突变体的人类类似物。
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