Journal of Inherited Metabolic Disease

, Volume 12, Supplement 1, pp 231–246 | Cite as

Gene mapping of mineral metabolic disorders

  • R. V. Thakker
  • K. E. Davies
  • J. L. H. O'Riordan
Prenatal And Perinatal Diagnosis


Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X-linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X-linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X-linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.


Magnesium Gene Mapping Genetic Counselling Metabolic Disorder Disease Gene 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • R. V. Thakker
    • 1
  • K. E. Davies
    • 2
  • J. L. H. O'Riordan
    • 3
  1. 1.Division of Molecular MedicineClinical Research CentreHarrow
  2. 2.Nuffield Department of Clinical MedicineJohn Radcliffe HospitalOxford
  3. 3.The Middlesex HospitalLondonUK

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