Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.
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.
Zhao
Hongshan
H
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.
Tian
Yong
Y
Breedveld
Guido
G
Huang
Shangzhi
S
Zou
Ying
Y
Y
Jue
J
Chai
Jinghua
J
Li
Hui
H
Li
Mingyue
M
Oostra
Ben A
BA
Lo
Wilson H Y
WH
Heutink
Peter
P
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
D005819:Genetic Markers