[应用反向点杂交技术对60例β地中海贫血进行快速产前诊断]
[Rapid prenatal diagnosis of 60 cases with beta-thalassemia by reverse dot blot analysis].
作者信息
Liao C, Xu X, Huang Y
机构信息
Medical Genetics Centre, Guangzhou Maternal and Neonatal Hospital.
出版信息
Zhonghua Fu Chan Ke Za Zhi. 1996 Jun;31(6):348-50.
OBJECTIVE
To evaluate the rapid prenatal diagnosis method for beta-thalassemia by reverse dot blot (RDB) analysis.
METHODS
Using RDB analysis which can detect 18 types of beta-thalassemia mutation, 60 fetuses (with 1 twin) suspected of beta-thalassemia from 59 couples in Southern China were investigated.
RESULTS
15 fetus had normal genotype, 34 were carriers of heterozygous with one of parental affected gene; 10 had both parental affected genes-heterozygous or homozygous; and 1 was not able to identified. Three rare types of beta-thalassemia mutations (CD43, CD14-15, CD27-28) were detected.
CONCLUSIONS
The RDB assay is able to complete the screening of beta-thalassemia mutation by DNA hybridization in only one single working day. It is simple, accurate and convenient to operate without radio-isotopes. It can be used as a routine technique in clinical laboratory for the detection of carriers and prenatal diagnosis of beta-thalassemia.
目的
评估反向点杂交（RDB）分析法用于β地中海贫血快速产前诊断的方法。
方法
采用能检测18种β地中海贫血突变类型的RDB分析法，对来自中国南方59对夫妇的60例（含1对双胞胎）疑似β地中海贫血胎儿进行研究。
结果
15例胎儿基因型正常，34例为杂合子携带者，其父母一方有致病基因；10例父母双方均有致病基因——杂合或纯合；1例无法鉴定。检测到3种罕见的β地中海贫血突变类型（CD43、CD14 - 15、CD27 - 28）。
结论
RDB检测法仅需1个工作日就能通过DNA杂交完成β地中海贫血突变的筛查。该方法操作简单、准确、便捷，无需放射性同位素。可作为临床实验室检测β地中海贫血携带者及产前诊断的常规技术。
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