论文部分内容阅读
目的分析四川泸州地区地中海贫血的发病率及基因突变类型和构成比。方法对泸州地区556例贫血患儿采用红细胞渗透脆性、血清铁蛋白、血红蛋白电泳进行筛查,筛查阳性者应用PCR方法结合DNA芯片杂交技术以及反向斑点杂交法分别进行α、β-地中海贫血基因突变位点分析。结果 556例贫血患儿中,地贫筛查阳性176例(阳性率31.65%),基因诊断阳性136例(阳性率24.46%),其中α-地贫53例,β-地贫81例,α合并β地贫2例。53例α-地贫患儿共检出7种突变基因型,其中--αSEA/αα缺失型占39.62%,-α3.7/αα缺失型26.42%。82例β-地贫患儿共检测出7种基因突变类型,有14种基因组合形式。其中以CD17(A→T)、IVS-Ⅱ-654(C→T)和CD41/42(-TTCT)最多见。结论四川泸州地区地中海贫血基因突变发生率较高;基因诊断是确诊地中海贫血的重要标准。
Objective To analyze the prevalence of thalassemia and the types and proportions of genetic mutations in Luzhou, Sichuan Province. Methods A total of 556 children with anemia in Luzhou district were screened for erythrocyte osmotic fragility, serum ferritin and hemoglobin electrophoresis. The positive samples were positive for α, β-thalassemia using PCR and DNA chip hybridization and reverse dot blot Gene mutation site analysis. Results Among the 556 children with anemia, 176 were positive for thalassemia (positive rate was 31.65%) and 136 were positive for gene diagnosis (positive rate was 24.46%), including 53 cases of α-thalassemia, 81 cases of β-thalassemia, 2 cases of combined β-thalassemia. Seventy-three mutant genotypes were detected in 53 cases of α-thalassemia, with -SEA / αα deletion accounting for 39.62% and -α3.7 / αα deletion accounting for 26.42%. 82 cases of β-thalassemia were detected in 7 kinds of gene mutation types, there are 14 kinds of gene combinations. Among them, CD17 (A → T), IVS-Ⅱ-654 (C → T) and CD41 / 42 (-TTCT) were the most common. Conclusions The prevalence of thalassemia gene mutations in Luzhou, Sichuan Province is high. Gene diagnosis is an important criterion for the diagnosis of thalassemia.