新疆一例汉族家系β地中海贫血IVS-Ⅱ-654(C→T)的基因分析

The Gene Analysis of β-Thalassemia Mutation(IVS-Ⅱ-654,C→T)Found in a Family of the Han Nationality in Xinjiang

应用聚合酶链反应结合等位基因特异的寡核苷酸探针斑点杂交技术(PCR/ASO),对新疆首例β地中海贫血(β地贫)家系进行基因分析,从12名家系成员中检出7例β地贫基因突变(IVS-(?)-654,C→T)的杂合子。结合家系调查、临床症状及血液学检查结果,证实先证者的致病基因来源于父方。该研究对了解新疆地区β地贫基因突变类型和频率,以及开展产前诊断具有重要意义。

This paper describes the gene analysis of the first family with β-thalassemia(β-thal) in Xinjiang was carried out by polymerase chain reaction (PCR) in combination withdot-blot hybridization of allele-specific oligonucleotide (ASO) probes.Seven of the 12 familymembers were heterozygous for the IVS-Ⅱ-654 (C→T) mutation.The abnormal β gene ofproband was confirmed from the father's side according to family survey,clinical syndromeand hematological data.This study is significant to understand the mutant types and frequen-cies of β-thal gene and to perform the prenatal diagnosis in Xinjiang region.