[Diagnosis by DNA analysis in familial isolated growth hormone deficiency type I-A].
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.
Campos
J L
JL
Hierro
F R
FR
Monfar
M
M
Boronat
A
A
Rivera
F
F
Casamitjana
R
R
Ferrer
A
A
Cruz
M
M
D001345:Autoradiography; D002675:Child, Preschool; D004247:DNA / Q000032:analysis*; D015342:DNA Probes; D005260:Female; D006130:Growth Disorders / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D009693:Nucleic Acid Hybridization
D015342:DNA Probes; D013006:Growth Hormone; D004247:DNA
Diagnóstico mediante análisis del DNA de la deficiencia aislada y familiar de hormona de crecimiento tipo I-A.