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目的探讨武汉地区儿童β地中海贫血致病基因分布情况。方法选择2013年1月至2015年1月在武汉市妇女儿童医疗保健中心就诊的经血细胞分析筛选出的疑似β地中海贫血患儿274例,其中男性178例,女性96例;年龄6个月~14岁,平均年龄为2.83岁。采集用乙二胺四乙酸二钾盐(EDTA)抗凝静脉血,提取白细胞DNA,采用PCR寡核苷酸探针反向斑点杂交法(PCR-RDB)进行β地中海贫血基因检测,对基因突变位点和基因型进行分析。结果 274例β地中海贫血初筛患儿中确诊152例,检出率为55.47%(152/274)。共检出9种等位基因突变,分别为IVS-2-654、CD41-42、CD17、CD43、CD71-72、CD27-28、-28、-29、CD26;3种最常见的突变位点IVS-2-654、CD41-42、CD17分别占到全部等位基因突变的43.81%(85/194)、23.20%(45/194)、12.89%(25/194)。共检出26种β地中海贫血基因型,9种单纯杂合子110例(占72.37%,110/152),13种双重杂合子36例(占23.68%,36/152),4种纯合子6例(占3.95%,6/152)。结论β地中海贫血是武汉地区贫血患儿的重要原因之一;武汉地区β地中海贫血患儿以IVS-2-654位点的突变最为常见。
Objective To investigate the distribution of β-thalassemia genes in children in Wuhan. Methods A total of 274 suspected β-thalassemia children were enrolled in this study from January 2013 to January 2015 in Wuhan Women and Children’s Medical Center. Among them, 178 were male and 96 were female; 14 years old, with an average age of 2.83 years. Blood samples were taken from anticoagulant venous blood with ethylenediaminetetraacetic acid dipotassium salt (EDTA), leukocyte DNA was extracted, and β-thalassemia gene was detected by PCR-RDB (dot blot hybridization) Site and genotype analysis. Results A total of 152 children with β-thalassemia were diagnosed in 274 cases, the detection rate was 55.47% (152/274). Nine alleles were detected, which were IVS-2-654, CD41-42, CD17, CD43, CD71-72, CD27-28, -28, -29 and CD26 respectively. The three most common mutation sites IVS-2-654, CD41-42 and CD17 accounted for 43.81% (85/194), 23.20% (45/194) and 12.89% (25/194) of the total alleles, respectively. Totally, 26 kinds of β-thalassemia were detected, 110 cases (72.37%, 110/152) of 13 simple heterozygotes, 36 cases (23.68%, 36/152) of 13 double heterozygotes and 4 homozygotes Example (3.95%, 6/152). Conclusion β-thalassemia is one of the most important causes of anemia in Wuhan. The mutation of IVS-2-654 is most common in children with β-thalassemia in Wuhan.