Detection of Growth Hormone Gene Defects by Dideoxy Fingerprinting (ddF).

• DOI: 10.1507/endocrj.44.149
• Publication Date: 2008-01-30T02:35:52Z
• Authors: ICHIRO MIYATA; JOY D. COGAN; MELISSA A. PRINCE; TAKASHI KAMIJO; MASAMICHI OGAWA; JOHN A. PHILLIPS
• Keywords: IGHD; Stop codon; Transversion; Silent mutation

We carried out screening for mutations in the GH-1 gene 29 sporadic Japanese subjects with severe Isolated Growth Hormone Deficiency (IGHD) by dideoxy fingerprinting (ddF). Three of (- 10%) were heterozygous each following including: 1) an G→A transition third codon signal peptide exon 1 resulting a Threonine to Alanine substitution, 2) first base donor splice site IVS 3 (+1G→A) and 3) 183rd mature 5 Arginine Histidine substitution. One three was both 2). The (+1G→A)mutation has been previously reported affected individuals from unrelated families IGHD type II (autosomal dominant form). This mutation destroys GH site, causing skipping loss codons amino acids 32-71 peptide. Our findings indicate that ddF genomic DNAs provides practical tool detect some cases may be caused alternations.