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 g...

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Bibliographic Details
Published in:Journal of international medical research 2001-09, Vol.29 (5), p.397-408
Main Authors: Koike, H, Motooka, M, Kanda, T, Onigata, K, Murakami, M, Suzuki, T, Kobayashi, I
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Autoantibodies - blood
Base Sequence
Biological and medical sciences
Child, Preschool
Diabetes Mellitus, Type 1 - blood
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 1 - immunology
Diabetes. Impaired glucose tolerance
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Female
Human Growth Hormone - genetics
Humans
Male
Medical sciences
Middle Aged
Pituitary Gland - immunology
Point Mutation
Polymerase Chain Reaction
Thyrotropin - blood
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Summary: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.
ISSN:0300-0605
1473-2300
DOI:10.1177/147323000102900504