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目的回顾性分析地中海贫血基因产前诊断病例,了解重型地贫胎儿的基因型状况。方法通过介入性产前诊断方法获取胎儿DNA,应用聚合酶链反应(PCR)方法进行地贫产前基因诊断。结果 53对夫妇的胎儿分别检出HbBart’s胎儿水肿综合征10例,HbH病1例,α地贫-1杂合子16例,α地贫-2缺失型1例,静止型α地贫5例,β地贫中间型(BEM)2例,重型β地贫6例,轻型β地贫12例,其中α、β复合型轻型地贫4例。结论 PCR产前基因诊断法能有效地检出各种常见地贫杂合子和纯合子。
Objective To retrospectively analyze the cases of thalassemia gene prenatal diagnosis and to understand the genotypes of children with severe thalassemia. Methods Fetal DNA was obtained by interventional prenatal diagnosis, and polymerase chain reaction (PCR) was used to diagnose prenatal thalassemia. Results HbBart’s fetal edema syndrome was detected in 53 out of 53 fetuses. One case of HbH disease, 16 cases of α-thalassemia-1 heterozygote, 1 case of α-thalassemia-2 null, 5 cases of resting α-thalassemia, 2 cases of β thalassemia intermedia (BEM), 6 cases of severe β thalassemia, and 12 cases of β thalassemia. Among them, 4 cases were α, β-thalassemia complex. Conclusion PCR prenatal gene diagnosis can detect all kinds of common thalassemia heterozygotes and homozygotes.