Detection of point mutation for human growth hormone in patients with anti-pituitary antibody positive type 1 diabetes mellitus.
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.
Koike
H
H
Department of Laboratory Medicine, Gunma University School of Medicine, Maebashi-shi, Gunma-ken, Japan.
Motooka
M
M
Kanda
T
T
Onigata
K
K
Murakami
M
M
Suzuki
T
T
Kobayashi
I
I
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
D001323:Autoantibodies; D019382:Human Growth Hormone; D013972:Thyrotropin