title: Linkage of typical pseudoachondroplasia to chromosome 19.
abstract: Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at theta = 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/D19S215)-++ +D19S222-D19S49.
authors.affiliation: Department of Pediatrics, University of Texas Medical School, Houston 77225.
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
authors.forename: M D
authors.initials: MD
authors.lastname: Briggs
authors.forename: M
authors.initials: M
authors.lastname: Deere
authors.forename: B
authors.initials: B
authors.lastname: Conner
authors.forename: W A
authors.initials: WA
authors.lastname: Horton
authors.forename: M
authors.initials: M
authors.lastname: Warman
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: S H
authors.initials: SH
authors.lastname: Blanton
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers