CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILYOosterwijk, JC., NELEN, M., VANZANDVOORT, PM., VANOSCH, LDM., ORANJE, AP., WITTEBOLPOST, D. & VANOOST, BA., Mar-1992, In : Ophthalmic Paediatrics and Genetics. 13, 1, p. 27-30 4 p.
Research output: Contribution to journal › Article › Academic › peer-review
In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.
|Number of pages||4|
|Journal||Ophthalmic Paediatrics and Genetics|
|Publication status||Published - Mar-1992|
- KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS, SIEMENS-I-SYNDROME, GENE MAPPING, X-LINKED INHERITANCE, CARRIER DETECTION, CORNEA DEGENERATION