Authors: Koike, H.; Motooka, M.; Kanda, T.; Onigata, K.; Murakami, M.; Suzuki, T.; Obayashi, I.

Source: The Journal of International Medical Research, Volume 29, Number 5, September 2001 , pp. 397-408(12)

Publisher: Field House Publishing

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.

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Keywords: ANTI-PITUITARY ANTIBODY-POSITIVE TYPE 1 DIABETES; HUMAN GROWTH HORMONE; POINT MUTATION; POLYMERASE CHAIN REACTION

Document Type: Research article

Publication date: 2001-09-01

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