Genomic mapping, functional analysis and bioinformatics of the Werner syndrome locus (WRN)

  • Bruskiewich, Richard Michael Maurice
Publication date
May 1999
Publisher
University of British Columbia Press

Abstract

Werner syndrome is a human genetic disorder exhibiting a phenotype of premature senility with adolescent age of onset. Genetic analysis supported the hypothesis that Werner syndrome is a lesion in a single locus, WRN, assigned to the short arm of human chromosome 8 by genetic linkage to a polymorphic marker, D8S87 (Goto et al, 1992). The primary goal of this thesis was the structural and functional genomic characterization of WRN. The thesis consists of two parts. The first part undertook fine scale refinement of the genetic and physical map of the candidate genome interval from markers D8S87 to D8S137. The second part applied bioinformatics to the functional analysis of WRN through comparative sequence analysis of the DExH DNA heli...

Extracted data

We use cookies to provide a better user experience.