Genetic analysis of familial isolated growth hormone deficiency type I

J. A. Phillips, J. S. Parks, B. L. Hjelle, J. E. Herd, L. P. Plotnick, C. J. Migeon, P. H. Seeburg

Research output: Contribution to journalArticle

Abstract

Nuclear DNA from individuals belonging to nine different families in which two sibs were affected with isolated growth hormone deficiency type I were studied by restriction endonuclease analysis. By using 32P-labeled human growth hormone or the homologous human chorionic somatomammotropin complementary DNA (cDNA) sequences as a probe, the growth genes of affected individuals from all families yielded normal restriction patterns. Polymorphic restriction endonuclease sites (HincII and MspI), which are closely linked to the structural gene for growth hormone on chromosome 17, were used as markers in linkage analysis of DNA of family members. Of the nine affected sib pairs two were concordant, three were possibly concordant, and four were discordant for both linked markers. Since only concordant sib pairs would have inherited the same growth hormone alleles, further studies to identify mutations of the growth hormone genes should be limited to this subgroup. It is unlikely that the discordance observed in four of the sib pairs is due to recombination, because the polymorphic HincII site is only 116 base-pairs from the -26 codon of the growth hormone gene. Thus, in at least four of the nine families, the mutation responsible for isolated growth hormone deficiency is not within or near the structural gene for growth hormone on chromosome 17.

Original languageEnglish (US)
Pages (from-to)489-495
Number of pages7
JournalJournal of Clinical Investigation
Volume70
Issue number3
StatePublished - 1982
Externally publishedYes

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Pituitary Dwarfism
Growth Hormone
Chromosomes, Human, Pair 17
Genes
DNA Restriction Enzymes
Placental Lactogen
Mutation
Human Growth Hormone
DNA
Codon
Base Pairing
Genetic Recombination
Complementary DNA
Alleles
Growth

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Phillips, J. A., Parks, J. S., Hjelle, B. L., Herd, J. E., Plotnick, L. P., Migeon, C. J., & Seeburg, P. H. (1982). Genetic analysis of familial isolated growth hormone deficiency type I. Journal of Clinical Investigation, 70(3), 489-495.

Genetic analysis of familial isolated growth hormone deficiency type I. / Phillips, J. A.; Parks, J. S.; Hjelle, B. L.; Herd, J. E.; Plotnick, L. P.; Migeon, C. J.; Seeburg, P. H.

In: Journal of Clinical Investigation, Vol. 70, No. 3, 1982, p. 489-495.

Research output: Contribution to journalArticle

Phillips, JA, Parks, JS, Hjelle, BL, Herd, JE, Plotnick, LP, Migeon, CJ & Seeburg, PH 1982, 'Genetic analysis of familial isolated growth hormone deficiency type I', Journal of Clinical Investigation, vol. 70, no. 3, pp. 489-495.
Phillips JA, Parks JS, Hjelle BL, Herd JE, Plotnick LP, Migeon CJ et al. Genetic analysis of familial isolated growth hormone deficiency type I. Journal of Clinical Investigation. 1982;70(3):489-495.
Phillips, J. A. ; Parks, J. S. ; Hjelle, B. L. ; Herd, J. E. ; Plotnick, L. P. ; Migeon, C. J. ; Seeburg, P. H. / Genetic analysis of familial isolated growth hormone deficiency type I. In: Journal of Clinical Investigation. 1982 ; Vol. 70, No. 3. pp. 489-495.
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