| Title : Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus - Frydman_1985_Proc.Natl.Acad.Sci.U.S.A_82_1819 |
| Author(s) : Frydman M , Bonne-Tamir B , Farrer LA , Conneally PM , Magazanik A , Ashbel S , Goldwitch Z |
| Ref : Proc Natl Acad Sci U S A , 82 :1819 , 1985 |
|
Abstract :
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services. |
| PubMedSearch : Frydman_1985_Proc.Natl.Acad.Sci.U.S.A_82_1819 |
| PubMedID: 3856863 |
Frydman M, Bonne-Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel S, Goldwitch Z (1985)
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus
Proc Natl Acad Sci U S A
82 :1819
Frydman M, Bonne-Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel S, Goldwitch Z (1985)
Proc Natl Acad Sci U S A
82 :1819