Molecular Analysis of Human X-linked Diseases

  1. K.E. Davies,
  2. S.P. Ball,
  3. H.R. Dorkins,
  4. S.M. Forrest,
  5. S.J. Kenwrick,
  6. A.W. King,
  7. I.J.D. Lavenir,
  8. S.A. McGlade,
  9. M.N. Patterson,
  10. T.J. Smith,
  11. L. Wilson,
  12. K. Paulsen*,
  13. A. Speer, and
  14. C. Coutelle
  1. Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU
  2. *Institüt für Humagenetik und Anthropologie, Freiburg, Federal Republic of Germany
  3. Institute of Molecular Biology, Academy of Sciences of the German Democratic Republic, 1115 Berlin

This extract was created in the absence of an abstract.

Excerpt

Many genes and phenotypes have been mapped to the human X chromosome because of their characteristic sex-linked mode of inheritance in families (McKusick 1983). Thus, some 100 disease loci and at least 100 DNA markers have been localized to the human X chromosome in recent years (Goodfellow et al. 1985). Until a few years ago, only two main linkage groups were established, one localized at Xpter and the other at Xqter (McKusick and Ruddle 1977). With the advent of DNA recombinant technology and the application of restriction-fragment-length polymorphisms (RFLPs) as genetic markers, it has been possible to construct a map spanning the entire human X chromosome (Botstein et al. 1980; Drayna and White 1985). Markers are sufficiently well distributed along the chromosome to enable the mapping of almost any common sex-linked disorder. In particular, some of these have been used for the development of markers for the carrier detection and...

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