Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y
Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
Biochem Biophys Res Commun. 1990 Jul 31;170(2):698-704. doi: 10.1016/0006-291x(90)92147-r.
Amplification of DNA via polymerase chain reaction directly from a small amount of a buffy coat fraction was used to study the molecular basis of HbE-beta-thalassemia in the northeastern Thai population. Eight different mutations including the new one causing a beta o-thalassemia phenotype were detected. This novel mutation is an amber mutation at codon 26, which occurs at the same position as that of HbE; the most common hemoglobin variant in Southeast Asian countries. A pitfall in detection of the HbE mutation by restriction enzyme analysis was pointed out and differential diagnosis of the HbE mutation and the novel one by using allele specific oligonucleotide probes were described. Analysis of polymorphic restriction sites in the beta-globin gene cluster containing the beta E gene revealed two previously undescribed haplotypes in the Southeast Asian populations, which provide evidence for the multiple origins of beta E gene in Southeast Asian populations.
通过聚合酶链反应直接从少量血沉棕黄层组分中扩增DNA，用于研究泰国东北部人群中HbE-β地中海贫血的分子基础。检测到8种不同的突变，包括导致β0地中海贫血表型的新突变。这种新突变是密码子26处的琥珀突变，与HbE（东南亚国家最常见的血红蛋白变异体）发生在相同位置。指出了通过限制性酶切分析检测HbE突变时的一个陷阱，并描述了使用等位基因特异性寡核苷酸探针鉴别诊断HbE突变和新突变的方法。对包含βE基因的β珠蛋白基因簇中的多态性限制性位点进行分析，在东南亚人群中发现了两种以前未描述的单倍型，这为东南亚人群中βE基因的多个起源提供了证据。
