采用DNA扩增技术检测泰国人群中的β-地中海贫血和血红蛋白E基因。

Detection of beta-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique.

作者信息

Winichagoon P, Kownkon J, Yenchitsomanus P, Thonglairoam V, Siritanaratkul N, Fucharoen S

机构信息

Department of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.

出版信息

Hum Genet. 1989 Jul;82(4):389-90. doi: 10.1007/BF00274004.

DOI:10.1007/BF00274004

PMID:2544510

Abstract

Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electrophoresis and ethidium bromide staining. Whereas the nonsense mutations at codon 17 (AAG----TAG) and Hb E (GAG----AAG at codon 26) were detected after digestion of the amplified DNA with the enzymes MaeI and MnlI, respectively.

摘要

酶促DNA扩增和聚丙烯酰胺凝胶电泳可显示不同大小的DNA片段，用于检测泰国人群中导致β地中海贫血和血红蛋白E（Hb E）的常见突变。密码子41和42处的4碱基缺失可通过聚丙烯酰胺凝胶电泳和溴化乙锭染色直接检测。而密码子17处的无义突变（AAG----TAG）和Hb E（密码子26处GAG----AAG）分别在用MaeI和MnlI酶消化扩增的DNA后检测到。