与血红蛋白E高患病率的南亚语系人群中β-珠蛋白基因座相关的DNA单倍型和框架

DNA haplotypes and frameworks linked to the beta-globin locus in an Austro-Asiatic population with a high prevalence of hemoglobin E.

作者信息

Yongvanit P, Sriboonlue P, Mularlee N, Karnthong T, Areejitranusorn P, Hundrieser J, Limberg R, Schulze B, Laig M, Flatz S D

机构信息

Department of Biochemistry, Faculty of Medicine, Khonkaen University, Thailand.

出版信息

Hum Genet. 1989 Sep;83(2):171-4. doi: 10.1007/BF00286712.

DOI:10.1007/BF00286712

PMID:2777257

Abstract

DNA haplotypes (HT) and frameworks (FW) linked to the beta-globin locus were determined by restriction fragment analysis using eight restriction enzymes on chromosomes bearing the Hb A gene (HBBA) or the HbE gene (HBBE) in the So, an Austro-Asiatic population of northeast Thailand with an HBBE frequency near 0.5. All HBBE genes were present with FW2, and only two haplotypes were observed (25 HT 27-2, -+- +-; 10 HT 41-2, +----++-). In a control group from the general population of Northeast Thailand the HT distribution was more diverse, and 2 of 20 HBBE genes were present in FW 3. High frequencies of HBBE in FW 3 in Southeast Asia are apparently limited to the Khmer population of Cambodia. There were no differences in the hematologic parameters in subjects homozygous for HBBE/FW2 or HBBE/FW3.

摘要

在泰国东北部的南亚语系群体So中，通过对携带Hb A基因（HBBA）或HbE基因（HBBE）的染色体使用8种限制性内切酶进行限制性片段分析，确定了与β-珠蛋白基因座相关的DNA单倍型（HT）和框架（FW），该群体中HBBE的频率接近0.5。所有HBBE基因均与FW2一起出现，仅观察到两种单倍型（25个HT 27-2，-+- +-；10个HT 41-2，+----++-）。在泰国东北部普通人群的对照组中，HT分布更为多样，20个HBBE基因中有2个存在于FW 3中。东南亚FW 3中HBBE的高频率显然仅限于柬埔寨的高棉人群体。HBBE/FW2或HBBE/FW3纯合子受试者的血液学参数没有差异。