摘要
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 paper describes a simple and nonradioactive DNA technique——RFLP linkage analysis of the amplified DNA for the prenatal diagnosis of a case with α-thalassemia associated with β-thalassemia. Fetal DNA was prepared from the lysed chorionic villus with out prior DNA extraction. DNA amplification with PCR was performed to amplify the α-and β-globin gene DNA sequences. Analysis of the amplified DNA on the gel electrophoresis showed that the fetus carried a α-thalasse mial-1 gene. Hgi AI RFLP linkage analysis of the amplified β-globin DNA from the family members indicated that the fetus was heterozygous for β-thalassemia. The result of the oligonucleotide hybridization using nine kinds of probes specific for the Chinese β-thal mutations confirmed that the fetus was inherited β-28A→G mutation from the mother.
出处
《遗传与疾病》
CSCD
北大核心
1989年第2期65-68,125+130,共4页
基金
美国国立卫生研究院USPHS科学基金HBL-29623
关键词
地中海贫血
DNA
产前诊断
遗传病
Polymerase chain reaction DNA amplification DNA analysis Thalassemia Prenatal Diagnosis
