title: Combined segregation and linkage analysis of HLA markers in familial psoriasis.
abstract: Marker-based segregation analysis (MBSA) is a modification of a published method of combined linkage and segregation analysis (Am J Hum Genet 51: 1111-1126, 1992), to determine whether a candidate gene known to be associated with the disease of interest is truly segregating with the disease in families. Here we outline the conceptual basis of MBSA and present a Monte Carlo method for significance testing. The method is applied to PSORS1, a locus within the major histocompatibility complex (MHC) for which linkage and linkage disequilibrium with psoriasis has already been demonstrated. The results are very consistent with our current knowledge of PSORS1, and suggest that MBSA can provide useful information on genotype-phenotype relationships such as penetrance and allelic heterogeneity.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Wisconsin, USA.
authors.forename: Sun-Wei
authors.initials: SW
authors.lastname: Guo
authors.forename: Stefan
authors.initials: S
authors.lastname: Jenisch
authors.forename: Philip
authors.initials: P
authors.lastname: Stuart
authors.forename: Ethan M
authors.initials: EM
authors.lastname: Lange
authors.forename: Debra
authors.initials: D
authors.lastname: Kukuruga
authors.forename: Rajan
authors.initials: R
authors.lastname: Nair
authors.forename: Tilo
authors.initials: T
authors.lastname: Henseler
authors.forename: John
authors.initials: J
authors.lastname: Voorhees
authors.forename: Enno
authors.initials: E
authors.lastname: Christophers
authors.forename: James T
authors.initials: JT
authors.lastname: Elder
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009010:Monte Carlo Method; D011565:Psoriasis / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D006680:HLA Antigens