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目的检测四川泸州地区重型β-地中海贫血患儿及其父母地中海贫血基因,寻找其主要致病基因突变位点。方法收集18例重型β-地中海贫血患儿及其父母外周血液,首先进行血常规、红细胞渗透脆性试验、血红蛋白电泳分析等血液学检查,然后再提取外周血DNA,采用寡核苷酸探针反向斑点杂交法进行β-地中海贫血基因突变位点分析。结果 18例重型β-地中海贫血患儿及其父母共检测出4种基因突变类型,其中以CD17(A→T)、CD41/42(-TTCT)和IVS-Ⅱ-654(C→T)最多见。18例重型患儿中,CD41/42(-TTCT)突变纯合子5例,CD17(A→T)突变纯合子3例,IVS-Ⅱ-654(C→T)和CD17(A→T)位点突变双重杂合子4例,CD41/42(-TTCT)和IVS-Ⅱ-654(C→T)位点突变双重杂合子3例,IVS-Ⅱ-654(C→T)和-28M(A→G)位点突变双重杂合子2例,CD41/42(-TTCT)和-28M(A→G)位点突变双重杂合子1例,其父母均为杂合子。结论重型β-地中海贫血的分子遗传学机制有高度的异质性;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 detect the gene of thalassemia in children with β-thalassemia major and its parents in Luzhou, Sichuan Province, and to search for the major mutation sites. Methods 18 cases of β-thalassemia major and peripheral blood of parents were collected. Hematology examination of blood routine, erythrocyte osmotic fragility test, hemoglobin electrophoresis analysis, and then DNA extraction from peripheral blood were performed. Analysis of β-thalassemia gene mutation sites by dot blot hybridization. Results Four types of mutations were detected in 18 cases of β-thalassemia major and their parents. Among them, CD17 (A → T), CD41 / 42 (-TTCT) and IVS-Ⅱ-654 see. Among 18 severe cases, 5 were homozygous for CD41 / 42 (-TTCT), 3 were homozygous for CD17 (A → T), IVS-Ⅱ-654 (C → T) and CD17 4 cases of double heterozygous mutation, 3 cases of double heterozygote mutation in CD41 / 42 (-TTCT) and IVS-Ⅱ-654 (C → T) sites, IVS-Ⅱ-654 → G) site mutations in 2 cases of double heterozygotes, CD41 / 42 (-TTCT) and -28M (A → G) site mutation double heterozygous in 1 case, the parents are heterozygous. Conclusions The molecular genetic mechanism of severe β-thalassemia is highly heterogeneous. The genotype of the patients is homozygote or double heterozygote. The age of onset is earlier, the interval of transfusion is shorter and the volume of blood transfusion is larger.