新加坡华人、马来人和印度人中的BamH1多态性及其在β地中海贫血产前诊断中的应用。

BamH1 polymorphism in the Chinese, Malays, and Indians in Singapore and its application in the prenatal diagnosis of beta-thalassemia.

作者信息

Tan J A, Tay S H, Kham K Y, Wong H B

机构信息

Department of Pediatrics, National University of Singapore.

出版信息

Jpn J Hum Genet. 1993 Sep;38(3):315-8. doi: 10.1007/BF01874141.

DOI:10.1007/BF01874141

PMID:7903173

Abstract

The distribution of restriction fragment length polymorphism (RFLP) at the BamH1 site of the beta-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 beta-thalassemia carriers in which 13 were couples with at least one beta-major child. The results from this study indicate that BamH1 polymorphism will be informative in 22% of pregnancies at risk for beta-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis using BamH1 polymorphism for one beta-major affected family, the fetus was diagnosed to be normal or beta-carrier. The validity of BamH1 polymorphism in the exclusion of beta-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.

摘要

在新加坡的华人、印度人和马来人中，研究了β-珠蛋白基因BamH1位点的限制性片段长度多态性（RFLP）分布。样本包括183名正常个体和35名β-地中海贫血携带者，其中13对夫妇至少有一个β-重型患儿。本研究结果表明，BamH1多态性在中国人群中22%的重型β-地中海贫血高危妊娠中具有信息价值，在马来人群中为19%，在印度人群中为7%。在对一个β-重型患儿家庭进行产前诊断时，利用BamH1多态性诊断胎儿为正常或β-携带者。随后通过珠蛋白链生物合成在出生时证实了BamH1多态性在排除重型β-地中海贫血方面的有效性。