同一染色体上两个α-珠蛋白基因座编码的血红蛋白I突变：人类基因组中的协同进化。
Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.
作者信息
Liebhaber S A, Rappaport E F, Cash F E, Ballas S K, Schwartz E, Surrey S
出版信息
Science. 1984 Dec 21;226(4681):1449-51. doi: 10.1126/science.6505702.
PMID:6505702
Abstract
Genetic analysis of an individual expressing an unexpectedly high level of hemoglobin I, an alpha-globin structural mutant, reveals that the mutation is present at both the alpha 1- and the alpha 2-globin gene loci. Kindred analysis confirms that the two affected genes are located in cis. The most likely explanation for this finding is that a recent conversion event occurred within the human alpha-globin gene cluster.
摘要
对一名表达异常高水平血红蛋白I（一种α-珠蛋白结构突变体）的个体进行基因分析，结果显示该突变同时存在于α1-和α2-珠蛋白基因位点。家系分析证实这两个受影响的基因位于顺式位置。对这一发现最可能的解释是，人类α-珠蛋白基因簇内最近发生了一次基因转换事件。
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