PCR产物直接序列分析法检出一例中国人β-地中海贫血罕见突变类型  

Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products

作　　者：单越新[1] 张基增 徐钤[1] 

机构地区：[1]第一军医大学生物化学教研室

出　　处：《第一军医大学学报》1993年第2期89-95,共7页Journal of First Military Medical University

摘　　要：本文报道用聚合酶链反应(PCR)产物直接测定β珠蛋白基因序列的方法,并用此方法检出一例中国人罕见的β—地中海贫血密码子14/15(+G)突变。在确定了突变位点的序列后,用相应的限制酶切图谱分析和用放射性同位素标记的等位基因特异性寡核苷酸探针进行斑点杂交,结果均证明测序结果的正确性。A technique of direct sequence analysis of β-globin gene with the products of amplification by polymerase chain reaction ( PCR ) was reported and a case of β-thalassemia with the rare mutation in Chinese, "codon 14/15 (+G ) " was detected by this method. After the sequence of the mutation site was determined, an analysis of the restriction map of the gene and dot blot hybridization with radioactive allele specific oligonucleotide probe was designed to confirm the result of DNA sequencing.

关 键 词：地中海贫血 聚合酶链反应 基因突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]