title: [Diagnosis by DNA analysis in familial isolated growth hormone deficiency type I-A].
abstract: 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.
authors.forename: J L
authors.initials: JL
authors.lastname: Campos
authors.forename: F R
authors.initials: FR
authors.lastname: Hierro
authors.forename: M
authors.initials: M
authors.lastname: Monfar
authors.forename: A
authors.initials: A
authors.lastname: Boronat
authors.forename: F
authors.initials: F
authors.lastname: Rivera
authors.forename: R
authors.initials: R
authors.lastname: Casamitjana
authors.forename: A
authors.initials: A
authors.lastname: Ferrer
authors.forename: M
authors.initials: M
authors.lastname: Cruz
mesh_terms: 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
chemical_list: D015342:DNA Probes; D013006:Growth Hormone; D004247:DNA
vernacular_title: Diagnóstico mediante análisis del DNA de la deficiencia aislada y familiar de hormona de crecimiento tipo I-A.