title: Detection of T to G mutation at position 59 in the Lewis gene by mismatch polymerase chain reaction.
abstract: Recently, we discovered the missense mutations of T to G at position 59 and of G to A at position 508 in one of the Lewis-negative (le) genes (Koda et al. 1993). In the present study, we report a method to detect the mutation at position 59 using mismatch PCR amplification and endonuclease MspI digestion. For this mutation, we found that 7 out of 12 Lewis-negative, and none of 15 Lewis-positive individuals were homozygous, while 4 out of 12 Lewis-negative, and 4 out of 15 Lewis-positive individuals were heterozygous. These results indicate that the mutation at position 59 is a common mutation in the le genes.
authors.affiliation: Department of Legal Medicine, Kurume University School of Medicine, Fukuoka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Koda
authors.forename: M
authors.initials: M
authors.lastname: Soejima
authors.forename: H
authors.initials: H
authors.lastname: Kimura
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005647:Fucosyltransferases / Q000235:genetics; D006580:Genetic Carrier Screening; D016678:Genome; D006720:Homozygote; D006801:Humans; D007983:Lewis Blood Group Antigens / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D015183:Restriction Mapping
chemical_list: D007983:Lewis Blood Group Antigens; D004247:DNA; D005647:Fucosyltransferases; C019818:3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase