Abstract
Using restriction endonuclease analysis and a human growth hormone cDNA probe, we have found a Chinese family with a human growth hormone gene deletion. Two affected sibs are homozygous for a deletion of approximately 7.1 kb of DNA, which contains the normal human growth hormone gene. The patients' parents and grandmothers are heterozygous for the deleted gene. Their grandfathers are normal and homozygous for the hGH-N gene. All of them have normal stature.
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- Barsh G. S., Seeburg P. H., Gelinas R. E. The human growth hormone gene family: structure and evolution of the chromosomal locus. Nucleic Acids Res. 1983 Jun 25;11(12):3939–3958. doi: 10.1093/nar/11.12.3939. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Braga S., Phillips J. A., 3rd, Joss E., Schwarz H., Zuppinger K. A new type of familial growth hormone deficiency due to a 8.5 kb deletion within the growth hormone gene cluster. Prog Clin Biol Res. 1985;200:103–111. [PubMed] [Google Scholar]
- 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]
- Frisch H., Phillips J. A., 3rd Growth hormone deficiency due to GH-N gene deletion in an Austrian family. Acta Endocrinol Suppl (Copenh) 1986;279:107–112. doi: 10.1530/acta.0.112s107. [DOI] [PubMed] [Google Scholar]
- Goossens M., Brauner R., Czernichow P., Duquesnoy P., Rappaport R. Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster. J Clin Endocrinol Metab. 1986 Apr;62(4):712–716. doi: 10.1210/jcem-62-4-712. [DOI] [PubMed] [Google Scholar]
- Laron Z., Kelijman M., Pertzelan A., Keret R., Shoffner J. M., Parks J. S. Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity? Isr J Med Sci. 1985 Dec;21(12):999–1006. [PubMed] [Google Scholar]
- Martial J. A., Hallewell R. A., Baxter J. D., Goodman H. M. Human growth hormone: complementary DNA cloning and expression in bacteria. Science. 1979 Aug 10;205(4406):602–607. doi: 10.1126/science.377496. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Rivarola M. A., Phillips J. A., 3rd, Migeon C. J., Heinrich J. J., Hjelle B. J. Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A. J Clin Endocrinol Metab. 1984 Jul;59(1):34–40. doi: 10.1210/jcem-59-1-34. [DOI] [PubMed] [Google Scholar]
- Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]