泰国β（0）-地中海贫血/HbE病的分子基础。

Molecular basis of beta (0)-thalassemia/HbE disease in Thailand.

作者信息

Petmitr S, Wilairat P, Kownkon J, Winichagoon P, Fucharoen S

机构信息

Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok Thailand.

出版信息

Biochem Biophys Res Commun. 1989 Jul 31;162(2):846-51. doi: 10.1016/0006-291x(89)92387-5.

DOI:10.1016/0006-291x(89)92387-5

PMID:2757643

Abstract

The molecular basis of beta(0)-thalassemia/HbE disease in 30 Thai patients was investigated using DNA amplification and dot-blot hybridization with a number of allele specific oligonucleotide probes. The mutations identified were 17 cases of 4 base-pair deletion at codons 41-42, 4 cases of amber mutation at codon 17, and one case each of an ochre mutation at codon 35, a single base substitution at position 5 of IVS-1, and a single base substitution at position 654 of IVS-2.

摘要

采用DNA扩增技术及多种等位基因特异性寡核苷酸探针进行斑点杂交，对30例泰国患者的β(0) -地中海贫血/HbE病的分子基础展开研究。所鉴定出的突变情况为：密码子41 - 42处4个碱基对缺失17例，密码子17处琥珀突变4例，密码子35处赭石突变、IVS - 1第5位单碱基替换以及IVS - 2第654位单碱基替换各1例。