title: Detection of point mutation for human growth hormone in patients with anti-pituitary antibody positive type 1 diabetes mellitus.
abstract: We investigated genetic mutations in the coding region of the human growth hormone (hGH) gene in anti-pituitary antibody (APA)-positive patients with type 1 diabetes mellitus (n = 6) or autoimmune thyroid diseases (n = 10) and in APA-negative, healthy controls (n = 10). A point mutation in the hGH gene was discovered in two patients with type 1 diabetes mellitus. No mutations were found in the hGH gene in control subjects, patients with autoimmune thyroid diseases (Hashimoto's thyroiditits, Graves' disease) or in the remaining four patients with type 1 diabetes mellitus. The mutation was located in the coding region for the second amino acid in the N-terminal region of hGH. This point mutation was identified in codon 2 in exon 2 of the hGH gene. We successfully developed an allele-specific amplification method for detecting this mutation using the polymerase chain reaction.
authors.affiliation: Department of Laboratory Medicine, Gunma University School of Medicine, Maebashi-shi, Gunma-ken, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Koike
authors.forename: M
authors.initials: M
authors.lastname: Motooka
authors.forename: T
authors.initials: T
authors.lastname: Kanda
authors.forename: K
authors.initials: K
authors.lastname: Onigata
authors.forename: M
authors.initials: M
authors.lastname: Murakami
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: I
authors.initials: I
authors.lastname: Kobayashi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000097:blood*; D001483:Base Sequence; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics* / Q000276:immunology; D005260:Female; D019382:Human Growth Hormone / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010902:Pituitary Gland / Q000276:immunology*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013972:Thyrotropin / Q000097:blood
chemical_list: D001323:Autoantibodies; D019382:Human Growth Hormone; D013972:Thyrotropin