Abstract
A family is presented in which the mother has transmitted primary hypoparathyroidism with early onset and serum PTH (44-68) and C terminal deficiency to her two sons. Restriction enzyme analysis of allelic variation at the PTH gene locus revealed that the disease and the PTH alleles segregate independently. It is therefore concluded that the primary molecular defect leading to this form of hypoparathyroidism is not located within the PTH gene itself.
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- Antonarakis S. E., Phillips J. A., 3rd, Mallonee R. L., Kazazian H. H., Jr, Fearon E. R., Waber P. G., Kronenberg H. M., Ullrich A., Meyers D. A. Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A. 1983 Nov;80(21):6615–6619. doi: 10.1073/pnas.80.21.6615. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cooper D. N., Smith B. A., Cooke H. J., Niemann S., Schmidtke J. An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet. 1985;69(3):201–205. doi: 10.1007/BF00293024. [DOI] [PubMed] [Google Scholar]
- Mayer H., Breyel E., Bostock C., Schmidtke J. Assignment of the human parathyroid hormone gene to chromosome 11. Hum Genet. 1983;64(3):283–285. doi: 10.1007/BF00279412. [DOI] [PubMed] [Google Scholar]
- Schmidtke J., Pape B., Krengel U., Langenbeck U., Cooper D. N., Breyel E., Mayer H. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Hum Genet. 1984;67(4):428–431. doi: 10.1007/BF00291404. [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]