title: C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy.
abstract: Hemoglobin (Hb) M-Saskatoon, a beta variant of methemoglobin, is characterized by mild hemolysis. It is caused by the substitution of a histidine by a tyrosine at the 63rd amino acid residue of the beta-globin chain. Amplification and sequence analysis of genomic beta-globin DNA from an Indonesian boy diagnosed as having the more severe disease thalassemia demonstrated the presence of a C to T transition at nucleotide 473 in one of the two beta-globin genes resulting in a histidine to tyrosine substitution at 63rd residue. This amino acid change matched with that reported in Hb M-Saskatoon. This nucleotide change abolished a recognition site for the restriction endonuclease NlaIII. NlaIII digestion of the corresponding beta-globin DNA amplified from the patient's parents indicated that the mutation was inherited through from his mother. This result shows that the world-wide distribution of Hb M-Saskatoon extends to Indonesia, where it was not previously identified. Possible causes of the unusually severe symptoms observed in the case are discussed.
authors.affiliation: Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan.
authors.forename: P
authors.initials: P
authors.lastname: Suryantoro
authors.forename: Y
authors.initials: Y
authors.lastname: Takeshima
authors.forename: A
authors.initials: A
authors.lastname: Haryanto
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007214:Indonesia; D008297:Male; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics*; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D009711:Nucleotides; C028907:hemoglobin Saskatoon; D005914:Globins