【摘要】 目的研究广西柳州地区αβ复合型地中海贫血(地贫)基因突变类型及检出率。方法采用膜反向杂交技术检测β地贫基因。用gap-PCR法检测三种常见α地贫缺失基因型:东南亚型缺失(--SEA)、右侧缺失(-α3.7)、左侧缺失(-α4.2)。结果153例β地贫中检测出30名α地贫,检出率为19.61%。均为轻型β地贫复合α地贫,其中β地贫杂合子复合--SEA/αα占90.00%,β地贫杂合子复合-α3.7/αα占3.33%,β地贫杂合子复合-α4.2/αα占6.67%。结论广西柳州地区αβ复合型地贫检出率高。--SEA/αα是本地区β地贫杂合子检出的主要复合α地贫基因型。准确诊断β地贫合并α地贫双重杂合子对正确进行遗传咨询,搞好优生优育十分重要。更多还原

【Abstract】 Objectives:To investigate the types of gene mutation for αβ-thalassemia and the prevalence in Liuzhou.Methods:RDB(Reverse dot blot)technique was used to detect β-thalassemia genes and gap-PCR technique was used to detect three common deficient genotypes for α-thalassemia:-SEA-α3.7and-α4.2.Results:Out of the 153 cases with β-thalassemia,30 were detected with α-thalassemia(19.61%).all were slight β-thalassemia complicated with α-thalassemia.Among them,β-thalassemia heterozygote complicated with——SEA/αα accounted for 90.00%,β-thalassemia heterozygote complicated with-α3.7/αα accounted for 3.33% and β-thalassemia heterozygote complicated with-α4.2/αα accounted for 6.67%.Conclusion:Liuzhou shows a high prevalence of αβ-thalassemia,with——SEA/αα as the main α-thalassemia genotype.Accurate diagnosis of double heterozygote of αβ-thalassemia is of importance for correct genetic counseling.更多还原