Abstract
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.
Original language | English |
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Pages (from-to) | 27-30 |
Number of pages | 4 |
Journal | Ophthalmic Paediatrics and Genetics |
Volume | 13 |
Issue number | 1 |
DOIs | |
Publication status | Published - Mar-1992 |
Keywords
- KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS
- SIEMENS-I-SYNDROME
- GENE MAPPING
- X-LINKED INHERITANCE
- CARRIER DETECTION
- CORNEA DEGENERATION