title: Detection of beta-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique.
abstract: Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electrophoresis and ethidium bromide staining. Whereas the nonsense mutations at codon 17 (AAG----TAG) and Hb E (GAG----AAG at codon 26) were detected after digestion of the amplified DNA with the enzymes MaeI and MnlI, respectively.
authors.affiliation: Department of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Winichagoon
authors.forename: J
authors.initials: J
authors.lastname: Kownkon
authors.forename: P
authors.initials: P
authors.lastname: Yenchitsomanus
authors.forename: V
authors.initials: V
authors.lastname: Thonglairoam
authors.forename: N
authors.initials: N
authors.lastname: Siritanaratkul
authors.forename: S
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D003062:Codon; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D004591:Electrophoresis, Polyacrylamide Gel; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA; D006446:Hemoglobin E; D004262:DNA Restriction Enzymes