title: Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus.
abstract: Werner's syndrome (WS) is a rare autosomal recessive disorder, one of the progeroid syndromes, characterized by features of premature aging. The genetic defect in WS is unknown but recently the genetic linkage of WS to several markers on the short arm of chromosome 8 has been reported. Genetic analysis of 25 families with WS demonstrated that D8S339 was the closest marker linked to the gene locus for Werner's syndrome (WRN), with a peak lod score of 18.29 at recombination frequency 0.001, and showed a linkage disequilibrium with the WRN locus. We studied two unrelated families with WS using ANK1, D8S339, and D8S360. The mutative haplotype identified through the generations in pedigrees provides a means of carrier detection and presymptomatic diagnosis.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kihara
authors.forename: J
authors.initials: J
authors.lastname: Nakura
authors.forename: L
authors.initials: L
authors.lastname: Ye
authors.forename: N
authors.initials: N
authors.lastname: Mitsuda
authors.forename: K
authors.initials: K
authors.lastname: Kamino
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: Y
authors.initials: Y
authors.lastname: Fujioka
authors.forename: T
authors.initials: T
authors.lastname: Miki
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers