摘要
用测序酶及寡核苷酸引物以Sanger的二脱氧末端终止法,对经聚合酶链式反应体外酶促扩增的DNA进行直接双链DNA测序。共分析了8例临床诊断为β—地中海贫血病人的16条染色体上的β—珠蚕白基因。方法简便、快速、准确可靠,可用于地贫及其他单基因遗传病的基因分析及癌基因奕变分析。
In this paper, we reported the direct genomic DNA sequencing of amplified DNA with sequenase TM and oligonucleotide primers 32p-labelled by Sanger dideoxymucletide end-terminated method. Using this method we studied the β-globin gene from 8 patients with β-thalassemia. The result demonstrates that the codons 41/42 (-4bp)are the most common mutation in these cases. By this method,new mutation can be easily identified.
出处
《湖南医科大学学报》
CSCD
1990年第4期391-395,共5页
Bulletin of Hunan Medical University
关键词
地中海贫血
DNA
突变
诊断
thalassemia
polymerase chain reaction
DNA mutational analysis
DNA polymerases
diagnostic use
