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日本成年人中Hb F升高者的β-珠蛋白基因簇中的%Hb A2、%Hb F、%Gγ值及单倍型

%Hb A2, %Hb F, %G gamma values and the haplotypes in the beta-globin gene cluster in Japanese adults with elevated Hb F.

作者信息

Shimizu K, Keino H

机构信息

Department of Morphology, Institute for Developmental Research, Aichi Prefectural Colony, Japan.

出版信息

Hum Hered. 1992;42(4):222-30. doi: 10.1159/000154074.

Abstract

The percentages of minor adult hemoglobin (%Hb A2) in hemolysates and G gamma-globin chain (%G gamma) in fetal Hb (Hb F) of 15 individuals with elevated Hb F levels (2.0-11%) among 11,000 healthy Japanese adults were examined. Most of them might be carriers for the determinants of hereditary persistence of fetal hemoglobin. Subjects with less than 1.3% Hb A2, some of whom might be also carriers for delta-thalassemia determinants, had high G gamma values (54-70%). Those homozygous for a subhaplotype [+-----] 5' to the delta-globin gene had low to mid G gamma values (7-49%), while those homozygous for [-++-++] possessed high G gamma values (60-85%), but varied Hb F values (3.1-11%). Those heterozygous for the presence of the XmnI site 5' to (-158 bp to the cap site of) the G gamma-globin gene had mid to high G gamma values (53-65%). Factors for the high or low G gamma-globin gene expression in the Japanese adult with elevated Hb F level should be highly associated with a subhaplotype [-++-++] or [+-----], respectively.

摘要

在11000名健康日本成年人中,对15名胎儿血红蛋白(Hb F)水平升高(2.0 - 11%)的个体的溶血产物中的成人微量血红蛋白百分比(%Hb A2)和胎儿血红蛋白(Hb F)中的Gγ-珠蛋白链百分比(%Gγ)进行了检测。他们中的大多数可能是胎儿血红蛋白遗传性持续决定因素的携带者。Hb A2低于1.3%的受试者,其中一些人可能也是δ-地中海贫血决定因素的携带者,其Gγ值较高(54 - 70%)。δ-珠蛋白基因5'端亚单倍型[+-----]纯合子的Gγ值为低到中等(7 - 49%),而[-++-++]纯合子的Gγ值较高(60 - 85%),但Hb F值有所不同(3.1 - 11%)。Gγ-珠蛋白基因5'端(至帽位点-158 bp处)存在XmnI位点的杂合子的Gγ值为中等至高(53 - 65%)。Hb F水平升高的日本成年人中Gγ-珠蛋白基因高表达或低表达的因素应分别与亚单倍型[-++-++]或[+-----]高度相关。

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