title: Identification of nucleotide substitution in gene encoding [LeuA3]insulin in third Japanese family.
abstract: We previously described a new case of abnormal insulinemia in Japan. In one allele, nucleotide-sequence analysis revealed a substitution in the codon for the third position of insulin A chain (GTG----TTG), causing [LeuA3]insulin. This point mutation is the same as that found in insulin Wakayama. In this family, the mutant insulin allele cosegregated with an 850-base pair PvuII allele of the hypervariable region 5'-flanking the insulin gene.
authors.affiliation: Division of Endocrinology and Metabolism, Jichi Medical School, Tochigi-ken, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Awata
authors.forename: Y
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: A
authors.initials: A
authors.lastname: Matsuda
authors.forename: T
authors.initials: T
authors.lastname: Kuzuya
mesh_terms: D001483:Base Sequence; D005260:Female; D005796:Genes; D006801:Humans; D007328:Insulin / Q000031:analogs & derivatives* / Q000097:blood / Q000235:genetics; D007564:Japan; D008297:Male; D009710:Nucleotide Mapping
chemical_list: D007328:Insulin; C048031:insulin, Leu(A3)-