应用MOEA技术进行β－地中海贫血基因诊断

Gene Diagnosis of β-Thalassemia by Using Mutant Oligonucleotide Extension Amplification(MOEA)

β－地中海贫血是一种多见于我国南方的遗传性疾病。本文应用突变寡核苷酸延伸扩增ＰＣＲ（ＭｕｔａｎｔＯｌｉｇｏｎｕｃｌｅｏｔｉｄｅＥｘｔｅｎｓｉｏｎＡｍｐｌｉｆｉｃａｔｉｏｎ，ＭＯＥＡ）技术，检测了３个家系的１２条染色体的β－珠蛋白基因突变类型，共检测到３种基因突变类型：ｅｏｄｏｎ４１－４２（－ＴＣＴＴ）移码突变，ＩＶＳ－Ⅱ－６５４（Ｃ→Ｔ）突变和ｃｏｄｏｎ１７（Ａ→Ｔ）突变（各占３３．３％）。

β-thalassemia is a common genetic disease in south china.by using mutant oligonucleotide extension amplification(MOEA) the analysis of 12 chromo somes of β-thalassemia mutations in three families was carried out. three different gene mutations were found.they are the frameshift at codon 41-42(-TCTT),the C→T mutation at position 654 in IVS-Ⅱ and the A→T mutation at codon 17 (33.3%).