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. 1994 Jan;31(1):81–82. doi: 10.1136/jmg.31.1.81

Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients.

Y Wang 1, L L Yu 1, Q Sheng 1, C Meng 1, J Sun 1, S S Chen 1
PMCID: PMC1049609  PMID: 8151648

Abstract

Human growth hormone (hGH) gene deletion (6.7 to 7.6 kb) is one of the causes of isolated growth hormone deficiency (IGHD), named IGHD IA. IGHD IA, however, only accounts for about 10% of the total IGHD patients. Most IGHD is caused by unknown mechanisms. Here, hGH gene 5' sequences in three IGHD patients without hGH gene deletion were analysed to see if there was any mutation hindering the expression of the hGH gene.

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Selected References

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  1. Braga S., Phillips J. A., 3rd, Joss E., Schwarz H., Zuppinger K. Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster. Am J Med Genet. 1986 Nov;25(3):443–452. doi: 10.1002/ajmg.1320250306. [DOI] [PubMed] [Google Scholar]
  2. DeNoto F. M., Moore D. D., Goodman H. M. Human growth hormone DNA sequence and mRNA structure: possible alternative splicing. Nucleic Acids Res. 1981 Aug 11;9(15):3719–3730. doi: 10.1093/nar/9.15.3719. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. He Y. A., Chen S. S., Wang Y. X., Lin X. Y., Wang D. F. A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. J Med Genet. 1990 Mar;27(3):151–154. doi: 10.1136/jmg.27.3.151. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Lemaigre F. P., Lafontaine D. A., Courtois S. J., Durviaux S. M., Rousseau G. G. Sp1 can displace GHF-1 from its distal binding site and stimulate transcription from the growth hormone gene promoter. Mol Cell Biol. 1990 Apr;10(4):1811–1814. doi: 10.1128/mcb.10.4.1811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Nishi Y., Aihara K., Usui T., Phillips J. A., 3rd, Mallonee R. L., Migeon C. J. Isolated growth hormone deficiency type 1A in a Japanese family. J Pediatr. 1984 Jun;104(6):885–889. doi: 10.1016/s0022-3476(84)80487-4. [DOI] [PubMed] [Google Scholar]
  6. Phillips J. A., 3rd, Hjelle B. L., Seeburg P. H., Zachmann M. Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci U S A. 1981 Oct;78(10):6372–6375. doi: 10.1073/pnas.78.10.6372. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Seeburg P. H. The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone. DNA. 1982;1(3):239–249. doi: 10.1089/dna.1.1982.1.239. [DOI] [PubMed] [Google Scholar]
  8. Wang Y., Lu P., Zhou K., Clay T., Wood N., Bradley B., Bidwell J. Nucleotide sequencing of HLA-DQ gene second exons in Chinese homozygous cells. Eur J Immunogenet. 1992 Oct;19(5):287–293. doi: 10.1111/j.1744-313x.1992.tb00071.x. [DOI] [PubMed] [Google Scholar]

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