EVOLUTION OF THE HEMOGLOBIN-S AND HEMOGLOBIN-C GENES IN WORLD POPULATIONS
EVOLUTION OF THE HEMOGLOBIN-S AND HEMOGLOBIN-C GENES IN WORLD POPULATIONS
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DOI：
10.1126/science.7384810
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发表时间：
1980-01-01
期刊：
影响因子：
56.9
通讯作者：
DOZY, AM
中科院分区：
文献类型：
--
作者：
KAN, YW;DOZY, AM
利用β-珠蛋白基因3′端的多态性HpaI酶切识别位点分析了β-珠蛋白基因突变体S和C的进化。对正常和变异HpaI位点的全球分布的研究表明，导致变异13.0-β-内酰胺酶片段的突变发生在西非的局部地区。它早于血红蛋白S和C突变，这两种突变分别来自具有变异13.0-脱氢酶HpaI位点的染色体。相反，非洲其他地区和亚洲的镰刀基因与正常的7.6-HpaI片段相关，这表明这些其他地区的镰刀突变与西非的突变是分开的。
A polymorphicHpaI endonuclease recognition site on the 3′ side of the β-globin gene was used to analyze the evolution of the β-globin gene mutants S and C. Study of the worldwide distribution of the normal and variantHpaI sites showed that the mutation which resulted in the variant 13.0-kilobase fragment arose in a localized region in West Africa. It predated the hemoglobin S and C mutations, both of which arose separately from a chromosome with the variant 13.0-kilobaseHpaI site. In contrast, the sickle genes in other parts of Africa and in Asia are associated with the normal 7.6-kilobaseHpaI fragment, indicating that the sickle mutations in these other areas arose separately from that in West Africa.