Detection of Point Mutation for Human Growth Hormone in Patients with Anti-pituitary Antibody Positive Type 1 Diabetes Mellitus  

Oleh:

Koike, H. ; Motooka, M. ; Kanda, T. ; Onigata, K. ; Murakami, M.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of International Medical Research vol. 29 no. 05 (Sep. 2001), page 397-408.
Topik: Human Growth Hormone; anti-pituitary antibody; Type 1 Diabetes Mellitus

Ketersediaan

Perpustakaan FK Nomor Panggil: J11.K.01-04.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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.

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali