黑色α地中海贫血-1：一个约80 kb缺失的部分特征分析，该缺失包括ζ和α珠蛋白基因。

Black alpha-thalassemia-1: partial characterization of an approximately 80 kb deletion which includes the zeta- and alpha-globin genes.

作者信息

Huisman T H, Gu L H, Liu J C, Fei Y J, Walker E L

机构信息

Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta 30912-2100.

出版信息

Hemoglobin. 1993 Aug;17(4):345-53. doi: 10.3109/03630269308997487.

DOI:10.3109/03630269308997487

PMID:7901183

Abstract

A large novel alpha-thalassemia-1 deletion which includes the zeta-, alpha 2-, alpha 1-, and theta 1-globin genes is described in a Black family living in Georgia and Florida. The deletion which was characterized by restriction enzyme analysis, extends 15 to 35 kb 5' and at least 35 kb 3' to the Cap site of the zeta-globin gene. Mental retardation was not observed. The deletion was present in a 35-year-old male with Hb H disease and his mother; the major hemoglobin type in the propositus was Hb G-Philadelphia or alpha (2)68(E12)Asn-->Lys beta 2 because his second chromosome carried the -alpha G(-3.7 kb) alpha-thalassemia-2 deletion.

摘要

在居住于佐治亚州和佛罗里达州的一个黑人家庭中，发现了一种大型的新型α地中海贫血-1缺失，该缺失包含ζ-、α2-、α1-和θ1-珠蛋白基因。通过限制性内切酶分析鉴定的这种缺失，在ζ-珠蛋白基因的帽位点上游延伸15至35 kb，下游至少延伸35 kb。未观察到智力迟钝。这种缺失存在于一名患有Hb H病的35岁男性及其母亲体内；先证者的主要血红蛋白类型为Hb G-费城或α(2)68(E12)Asn→Lys β2，因为他的第二条染色体携带-αG(-3.7 kb)α地中海贫血-2缺失。