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Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene

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Summary

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. A minimum recombinant analysis using D13S22, ESD, RB1, D13S31, D13S55, D13S26, D13S39, and D13S12, all localized at 13q14-q22, has been carried out in 20WD families of Northwest-European origin. No inconsistencies have been observed with respect to locus order or location of the WD locus (WND) compared with previous linkage studies. D13S31 was mapped as the closest marker proximal to WND, whereas D13S55 and D13S26 were mapped as the closest markers distal to WND. We have identified a crossover between WND and D13S31 in one family and a crossover between WND and D13S55 in another. These crossover sites can be used as reference points for new chromosome 13q14-q21 markers, and are therefore important for a more accurate mapping of the WD locus.

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Scheffer, H., Houwen, R.H.J., TeMeerman, G.J. et al. Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene. Hum Genet 89, 607–611 (1992). https://doi.org/10.1007/BF00221947

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Keywords

  • Copper
  • Internal Medicine
  • Metabolic Disease
  • Reference Point
  • Genetic Localization