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目的了解现行PCR-RDB法对中间型β-地贫基因诊断的准确性。方法对5个中间型β-地贫家系进行血常规、血红蛋白电泳和β-地贫基因的PCR-RDB法检测,并用长链PCR法检测家系1和家系2中的先证者及母亲的β-地贫基因的缺失突变。结果 5例先证者HbF含量均增高,其中2例为轻度贫血,3例为中度贫血;4例先证者PCR-RDB法结果为杂合子与其表现的临床症状不符,1例先证者PCR-RDB结果为纯合子与父母基因检测结果不符;先证者1及其母亲长链PCR法显示阴性,先证者2及其母亲长链PCR法均为东南亚(SEA)缺失型HPFH。结论若在产前诊断时仅用PCR-RDB法检测β-地贫基因,会造成缺失型β-地贫基因漏诊,引起一系列严重的社会问题。
Objective To understand the accuracy of the current PCR-RDB method in the diagnosis of β-thalassemia intermedia. Methods The blood samples, hemoglobin electrophoresis and β-thalassemia genes of 5 intermediate β-thalassemia families were detected by PCR-RDB method and the probands and maternal β - Thalassemia gene deletion mutation. Results The 5 cases of probands HbF levels were increased, including 2 cases of mild anemia and 3 cases of moderate anemia; 4 cases proband PCR-RDB results heterozygous and its performance of the clinical symptoms do not match, 1 case of first card PCR-RDB results showed homozygous and parental gene test results do not match; proband 1 and his mother long-run PCR method showed negative, proband 2 and his mother long-chain PCR were SEA deletion HPFH. Conclusions The detection of β-thalassemia gene only by PCR-RDB in prenatal diagnosis will result in the missed diagnosis of deletion β-thalassemia and cause a series of serious social problems.