摘要
A technique of direct sequence analysis of β-globin gene with the products of amplifi-cation by polymerase chain reaction (PCR) was reported and a case of β-thalassemia with therare mutation in Chinese,‘codon 14/15 (+G)’ was detected by this method.After the se-quence of the mutation site was determined,an analysis of the restriction map of the gene anddot blot hybridization with radioactive allele specific oligonucleotide probe was designed to con-firm the result of DNA sequencing.
A technique of direct sequence analysis of β-globin gene with the products of amplifi- cation 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 se- quence 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 con- firm the result of DNA sequencing.
