[Study of growth hormone gene in non-familial complete somatotropin deficiency].
Familial growth hormone deficiency has been often associated to homozygous gene deletions. In this work we have looked for the possible absence of this gene in patients with isolated GH deficiency. The patient genomic DNAs have been digested with two restriction enzymes and hybridized with a 32P labelled growth hormone cDNA. The presence of the growth hormone gene has been proved in the patients. This situation, in which the gene is present but not expressed, might be due to changes in gene regulation or to punctual gene deletions or mutations.
Ruiz-Pacheco
R
R
Biochimie Endocrinienne du Développement et de la Reproduction, CHRU Lapeyronie et INSERM U 58, Montpellier, France.
Lobaccaro
J M
JM
Roizes
G
G
Sultan
C
C
D002648:Child; D015342:DNA Probes; D015245:Deoxyribonuclease BamHI / Q000494:pharmacology; D015247:Deoxyribonuclease HindIII / Q000494:pharmacology; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D015183:Restriction Mapping; D016415:Sequence Alignment
D015342:DNA Probes; D013006:Growth Hormone; D015245:Deoxyribonuclease BamHI; D015247:Deoxyribonuclease HindIII
Etude du gène de l'hormone de croissance dans le déficit somatotrope complet non familial.