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目的调查百色市田东县0-7岁儿童地中海贫血(地贫)的基因突变类型及其频率特征。方法对田东县5000名儿童进行血细胞分析和血红蛋白电泳筛查,用Gap-PCR方法、PCR结合反向斑点杂交(PCR-RDB)法对筛查阳性的儿童进行常规基因检测。结果在5000人中筛查出阳性2107例,经基因确诊,共检测出α地贫856例,发生率为17.12%,检出6种基因突变类型,构成21种基因型,其中以--SEA/αα(37.27%)和-α3.7/αα(27.1%)最为多见;β地贫285例,发生率为5.7%,共检出8种基因位点突变,突变频率依次为CD17(43.19%)、CD41-42(41.45%)、CD26(5.22%)、-28(4.06%)、IVS-I-1(3.86%)、CD71-72(1.40%)、IVS-II-654(1.05%)、CD43(1.05%)。α合并β地贫60例,占1.2%。结论该地区是地中海贫血发生率较高和地中海贫血基因背景较复杂的地区,在地贫高发地区应加强对儿童人群进行地贫的血液学筛查和常见基因的诊断。
Objective To investigate the genotypes and frequency characteristics of thalassemia (thalassemia) children aged 0-7 in Tiandong County, Baise city. Methods 5000 children in Tiandong County were screened for hemocytochemistry and hemoglobin electrophoresis. The Gap-PCR method and PCR-RDB method were used to detect the common gene in children with positive screening. Results A total of 2107 cases were screened out from 5,000 people. After gene diagnosis, 856 cases of α-thalassemia were detected, the incidence rate was 17.12%. Six kinds of gene mutation types were detected and 21 genotypes were detected, of which -SEA (37.27%) and -α3.7 / αα (27.1%) were the most common. 285 cases of β-thalassemia were found, the incidence rate was 5.7%, and 8 gene loci were detected. The frequency of mutation was CD17 (43.19 (41.45%), CD26 (5.22%), -28 (4.06%), IVS-I-1 (3.86%), CD71-72 (1.40%), IVS-II-654 ), CD43 (1.05%). α merged β-thalassemia 60 cases, accounting for 1.2%. Conclusions This region is a region with high prevalence of thalassemia and complicated genetic background of thalassemia. Hemological screening of thalassemia and diagnosis of common genes should be strengthened in children with high thalassemia.