Diagnosis by DNA analysis in familial isolated growth hormone deficiency type I-A
Campos, J.L.; Hierro, F.R.; Monfar, M.; Boronat, A.; Rivera, F.; Casamitjana, R.; Ferrer, A.; Cruz, M.
Medicina Clinica 92(7): 261-263
1989
ISSN/ISBN: 0025-7753 PMID: 2716409 Document Number: 334153
We show the autoradiograms of DNA from one child affected of familial isolated growth hormone deficiency type I-A. Restriction endonuclease analysis of DNA isolated from leukocytes was done using 32P-labeled human GH cDNA clone as a probe. DNA analysis using the restriction endonuclease Bam HI revealed that the 3.8 kb restriction fragment, which contain the normal hGH-N gene, was absent. Since these deletions preclude production of any GH-N protein, affected individuals tend to be immunologically intolerant to exogenous GH. The child was homozygote and after treatment with exogenous GH developed a high titre of antibodies to GH and growth arrest. This is the first case of this genetic disorder studied in Spain.