新疆1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地小海贫血(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-Ⅱ-654,CT)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。

Gene analysis of the first family with β-thalassemia in Xinjiang was carried out by polymerase chain reaction (PCR) in combination with dot blot hybridization of allele -specific oligonucleotide (ASO) probes. Seven of the 12 family members were heterozygous for the IVS- Ⅱ-654 (C→T) mutation. The abnormal β gene of proband was confirmed from the paternal side according to family survey, clinical syndrome and hematological data.