【摘要】 目的了解渝东北区人群地中海贫血(简称地贫)基因携带率、基因突变类型及分布特征。方法对2013年1~12月来该院就诊及体检共计28 633例样本进行红细胞参数及血红蛋白电泳过筛,表型阳性的标本再用Gap-PCR和反向斑点杂交(RDB)基因检测方法确诊地贫类型。结果 28 633例样本中,检出α和β地贫共1 358例,地贫总携带率为4.74%。其中589例(2.06%)α地贫以αα/--SEA(1.38%)型最常见,其次为-αα/-α3.7(0.37%)和αα/-α4.2(0.20%);741例(2.59%)β地贫中检出14种基因突变类型,以CD41-42(1.27%)型构成比最高,其次为IVS-2-654(0.69%)和CD17(0.30%);α地贫复合β地贫双重杂合子28例。结论渝东北区是地贫发生率较高且遗传较复杂的地区,该研究为该区预防地贫、遗传咨询、诊断等提供了参考借鉴资料。更多还原

【Abstract】 Objective To understand the gene carrying rate,gene mutation types and distribution characteristics of thalassemia in the northeast area of Chongqing.Methods 28 633 specimens collected from the patients and individuals with physical examination in our hospital from January to December 2013 were performed the RBC parameters detection and hemoglobin electrophoresis screening.The specimens with phenotype positive were definitely verified the thalassemia type by using Gap-PCR and reverse dot blot(RDB).Results Among 28 633 specimens,1 358 specimens were finally diagnosed as thalassemia with the thalassemia carrying rate of 4.74%,including 589cases(2.06%)ofα-thalassemia and 741cases(2.59%)ofβ-thalassemia cases.Among theα-thalassemia genotypes,-αα/--SEA genotype(1.38%)was most common,the next was-αα/-α3.7 genotype(0.37%)andαα/-α4.2 genotype(0.20%).Among theβ-thalassemia genotypes,CD41-42genotype(1.27%)had the highest constituent ratio,followed by IVS-2-654genotype(1.27%)and CD17genotype(0.30%).28 cases were found to be the double heterozygote withα-thalassemia andβ-thalassemia.Conclusion The northeast area of Chongqing is a region with the high incidence rate of thalassemia and complicated heredity.Therefore this research provides the reference information for the prevention of thalassemia,genetic counseling and prenatal diagnosis.更多还原