title: Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.
abstract: Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been described. In type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations in the GLI3 gene are associated with postaxial polydactyly in some families and a second locus has been identified on chromosome 13 but the majority of cases remain unexplained. We report here a third locus for postaxial polydactyly on chromosome 19p13.1-13.2 in a large Chinese kindred with a combination of type A and B. Two-point linkage analysis showed the highest LOD score (Z(max) = 5.85 at theta; = 0 cM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 cM on the genetic map.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, WHO Collaboration Center of Community Control for Inherited Diseases, Beijing, People's Republic of China.
authors.forename: Hongshan
authors.initials: H
authors.lastname: Zhao
authors.forename: Yong
authors.initials: Y
authors.lastname: Tian
authors.forename: Guido
authors.initials: G
authors.lastname: Breedveld
authors.forename: Shangzhi
authors.initials: S
authors.lastname: Huang
authors.forename: Ying
authors.initials: Y
authors.lastname: Zou
authors.forename: Jue
authors.initials: J
authors.lastname: Y
authors.forename: Jinghua
authors.initials: J
authors.lastname: Chai
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Mingyue
authors.initials: M
authors.lastname: Li
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Wilson H Y
authors.initials: WH
authors.lastname: Lo
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
mesh_terms: D002681:China; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics* / Q000473:pathology*; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers