摘要
β地中海贫血密码子41～42(—4bp)突变的杂合子经PCR体外扩增后,聚丙烯酰胺凝胶电泳除显示预定扩增片段外,还显示由DNA异源双链组成的额外双带,据此设计出简单的识别β41～42突变纯合子、杂合子及相应的正常个体的方法,并成功地应用于产前断诊。
The PCR-amplified products of β41-42 ( -4bp ) heterozygote were electropho-resed in a polyacrylamide gel, two heteroduplexes appearing in addition to the expected bands. A simple approach was worked out to distinguish the homozygote and heterozygote of the mutation or normal individual and successfully applied to the prenatal diagnosis of a fetus at risk.
出处
《第一军医大学学报》
CSCD
1991年第3期189-192,共4页
Journal of First Military Medical University
关键词
异源双链
地中海贫血
heteroduplex
thalassemia
prenatal diagnosis
