MOLECULAR AND EPIDEMIOLOGICAL STUDIES OF WAARDENBURG SYNDROME

Project Details

Description

We performed linkage analyses and tests of locus heterogeneity of
Waardenburg Syndrome (WS) using 9 DNA markers from 2q35-37, including
two highly polymorphic microsatellites very closely linked to the
candidate PAX3 locus. Analysis of 14 WS Type 1 (WS1) families at
PAX3 yielded a maximum LOD score of 27.81, theta-f = .010, theta-m =
.007 assuming homogeneity. However, we found significant evidence of
heterogeneity in our study, with approximately 90% of our families
linked to the PAX3 region. None of five WS Type 2 (WS2) families
showed linkage to the PAX3 candidate region, and linkage was excluded
(LOD < -2.0) up to a distance of 17.5 cM. We localized the marker
D2S102 to less than 1cM from PAX3 locus (theta = 0), and thus were
unable to determine whether it mapped distally or proximally due to
lack of crossovers between these two markers. Meiotic breakpoint
analysis in one of the three families with a crossover between WE1
and PAX3 provides strong evidence that the disease gene in this
family is located elsewhere in the genome.
StatusNot started

Funding

  • National Institute of Dental and Craniofacial Research
  • National Institute of Dental and Craniofacial Research
  • National Institute of Dental and Craniofacial Research

ASJC

  • Genetics

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