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中国人群和美国黑人中相同的“TATA”盒β地中海贫血突变:突变独立起源的又一实例

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

作者信息

Huang S, Wong C, Antonarakis S E, Ro-lien T, Lo W H, Kazazian H H

出版信息

Hum Genet. 1986 Oct;74(2):162-4. doi: 10.1007/BF00282081.

Abstract

A Chinese beta +-thalassemia gene in a new haplotype was chosen for cloning and sequencing. The mutation identified was an A-G transition at position -29 in the TATA box of the beta-globin gene. This mutation has not been seen previously in Chinese but has been documented in American blacks on a different chromosomal background. This observation provides further evidence for independent origins of the same mutation in distinct ethnic groups.

摘要

选择一个新单倍型中的中国β+-地中海贫血基因进行克隆和测序。鉴定出的突变是β-珠蛋白基因TATA框中第-29位的A-G转换。这种突变以前在中国未见报道,但在不同染色体背景的美国黑人中已有记录。这一观察结果为同一突变在不同种族群体中的独立起源提供了进一步的证据。

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