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目的检验泸州地区β-珠蛋白生成障碍性贫血(β-地贫)患儿及其父母地贫基因,寻找泸州地区引起该病的主要致病基因突变位点,并探讨其与临床病变程度的关系。方法采集40例β-地贫患儿及其父母外周血,根据临床表现和实验室检查分为重型组(14例)和非重型组(26例),提取DNA,采用PCR和DNA反向点杂交法进行β-地贫基因突变位点分析。结果 40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)、CD41/42(-TTCT)和IVS-Ⅱ-654(C→T)最多见。14例重型β-地贫患儿中,突变纯合子8例,双重杂合子6例,其父母均为杂合子。结论β-地贫患儿基因突变符合遗传规律;重型β-地贫患儿基因型为纯合子或双重杂合子,其发病年龄早,输血间隔时间短,输血量大。
Objective To test the gene of thalassemia in children with β-thalassemia and its parents in Luzhou, and to search for the major pathogenic mutation sites in Luzhou and to explore its relationship with clinical pathological changes relationship. Methods Forty children with β-thalassemia and their parents were enrolled in this study. Peripheral blood was collected from 40 patients with β-thalassemia and divided into severe group (14 cases) and non-severe group (26 cases) according to clinical manifestations and laboratory tests. Hybridization method for β-thalassemia gene mutation site analysis. Results A total of 7 gene mutation types were detected in 40 cases of β-thalassemia, and 14 gene combinations were found. Among them, CD17 (A → T), CD41 / 42 (-TTCT) and IVS-Ⅱ-654 (C → T) were the most common. In 14 cases of severe β-thalassemia, 8 cases of homozygous mutation, 6 cases of double heterozygote, their parents are heterozygous. Conclusion The gene mutation in children with β-thalassemia is in accordance with the genetic rule. The genotype of children with β-thalassemia major is homozygous or double heterozygote, with early onset, short blood transfusion interval and large blood transfusion.