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Polymorphic microsatellites and Wilson disease (WD)

E A Stewart1, A White, J Tomfohrde

  • 1Department of Genetics, Stanford University.

American Journal of Human Genetics
|October 1, 1993
PubMed
Summary
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New microsatellite markers significantly improve genetic testing accuracy for Wilson disease (WD), a copper metabolism disorder. These markers enhance predictive testing for families, achieving over 99% accuracy in preclinical cases.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease Genetics

Background:

  • Wilson disease (WD) is an autosomal recessive disorder affecting copper metabolism.
  • The WD locus (WND) has been previously mapped to chromosome 13q14.3.

Purpose of the Study:

  • To describe highly informative PCR-based polymorphic microsatellite markers closely linked to the WD locus.
  • To improve the accuracy of genetic linkage analysis and predictive testing for Wilson disease.

Main Methods:

  • Development and characterization of polymorphic microsatellite markers (D13S118, D13S119, D13S227, D13S228).
  • Placement of markers on a genetic linkage map of chromosome 13.
  • Typing of markers in 74 multiplex WD families (166 affected individuals).
  • Multipoint linkage analysis to refine the WND locus location.

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Main Results:

  • Two markers (D13S118, D13S119) are within 3 cM of WND.
  • Multipoint analysis strongly localized WND between D13S31/D13S227/D13S228 and D13S59, with odds of 5,000:1.
  • Preclinical testing in three WD cases demonstrated the utility of the markers.
  • The new markers ensure >99% accuracy for predictive tests in 95% of cases when DNA from both parents and an affected sibling is available.

Conclusions:

  • The described polymorphic microsatellite markers provide highly accurate genetic linkage information for Wilson disease.
  • These markers significantly enhance the precision of predictive genetic testing for WD families.
  • The enhanced accuracy facilitates earlier diagnosis and potential intervention for Wilson disease.