title: Characterization of genomic polymorphism of an activation-associated antigen, Blast-1.
abstract: Blast-1 is a human activation-associated glycoprotein expressed on the surface of mononuclear cells, and a possible genetic marker for the manifestation of rheumatoid arthritis. In the present study, genomic polymorphism of the Blast-1 gene was analyzed using 100 healthy subjects. Restriction fragment length polymorphism (RFLP) of the Blast-1 gene was recognized only by Bam HI digestion among 46 restriction enzymes tested. The sizes of polymorphic fragments were 2.4 kilobase (kb) on the L band, and 1.9 kb on the S band. A family study demonstrated that the two alleles of the Blast-1 gene were inherited in a co-dominant Mendelian fashion. The genotype frequencies of homozygosity for the L and S bands were 47% and 42%, respectively, while the frequency of heterozygosity was 11%. The allele frequencies of the L and S bands were 0.68 and 0.32, respectively. The distribution of the Blast-1 genotypes in the present study was concordant with Hardy-Weinberg equilibrium (p greater than 0.7), which indicates that the frequency of the Blast-1 gene in the population is derived from random mating in preceding generations. The results of the present study may provide useful information in disease associations with the Blast-1 gene.
authors.affiliation: Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Matsui
authors.forename: K
authors.initials: K
authors.lastname: Shibano
authors.forename: H
authors.initials: H
authors.lastname: Kashiwagi
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa-Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Inoko
authors.forename: D E
authors.initials: DE
authors.lastname: Staunton
authors.forename: D A
authors.initials: DA
authors.lastname: Thorley-Lawson
mesh_terms: D015703:Antigens, CD; D000954:Antigens, Surface / Q000235:genetics*; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D000071178:CD48 Antigen; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008562:Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015703:Antigens, CD; D000954:Antigens, Surface; D000071178:CD48 Antigen; C000604065:CD48 protein, human; D008562:Membrane Glycoproteins