title: Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia.
abstract: Nucleotide sequence of the exon-intron junction in human alpha-globin gene was analyzed by quantification method proposed previously. Using sample score of 9-nucleotide sequence at 5'-splice site, we examined strength of the splice signal. We further studied a mutant of alpha-thalassemia, where pentanucleotide deletion occurs around 5'-splice junction of the first intron. This mutation abolishes the normal 5'-splice site completely, but activates a cryptic site lying in the first exon. Such a behaviour was well explained in terms of our sample scoring scheme.
authors.affiliation: Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Iida
mesh_terms: D001483:Base Sequence; D005091:Exons; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012322:RNA Precursors; D012326:RNA Splicing / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*
chemical_list: D012322:RNA Precursors; D005914:Globins