Details

Autor(en) / Beteiligte

• Campos, J L
• Hierro, F R
• Monfar, M
• Boronat, A
• Rivera, F
• Casamitjana, R
• Ferrer, A
• Cruz, M

Titel

Diagnosis by DNA analysis in familial isolated growth hormone deficiency type I-A

Ist Teil von

• Medicina clínica, 1989-02, Vol.92 (7), p.261-263

Ort / Verlag

Spain

Erscheinungsjahr

1989

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.