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本文报道用一种简便的非同位素的基因诊断技术——扩增DNA的RFLP连锁分析,对一例同时有α-和β-地中海贫血危险的胎儿进行产前诊断的结果。绒毛标本毋需进行DNA抽提,直接通过聚合酶链反应(PCR)扩增其珠蛋白基因片段。凝胶电泳分析其扩增的α-珠蛋白DNA示明胎儿携带一个α-地贫1基因,用HgiAI多态连锁分析该家系扩增的β-珠蛋白DNA表明胎儿为β-地贫特征,因而诊断胎儿为α-地贫1和β-地贫基因的双重杂合子。进一步用9种特异于中国人β-地贫突变类型的寡核苷酸探针与扩增的β-珠蛋白DNA进行分子杂交,证实胎儿从其母亲处遗传得到β-28A→G突变基因。
This article reports the results of a prenatal diagnosis of a fetus at risk of both α- and β-thalassemia using a simple non-isotopic genetic diagnostic technique - RFLP linkage analysis of amplified DNA. Villus specimens without DNA extraction, directly by polymerase chain reaction (PCR) amplification of its globin gene fragment. Analysis of the amplified a-globin DNA by gel electrophoresis showed that the fetus carried an α-thalassemia 1 gene, and the β-globin DNA amplified by this pedigree was analyzed by HgiAI polymorphism to show that the fetus was characterized by β-thalassemia. The fetus was thus diagnosed as a double heterozygote of alpha-thalassemia 1 and beta-thalassemia genes. Further, molecular hybridization was carried out with nine kinds of oligonucleotide probes specific to the Chinese β-thalassemia mutation and amplified β-globin DNA, confirming that the fetus inherited the β-28A → G mutation gene from its mother.