CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

JC Oosterwijk, M NELEN, PM VANZANDVOORT, LDM VANOSCH, AP ORANJE, D WITTEBOLPOST, BA VANOOST

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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 languageEnglish
Pages (from-to)27-30
Number of pages4
JournalOphthalmic Paediatrics and Genetics
Volume13
Issue number1
DOIs
Publication statusPublished - Mar-1992

Keywords

  • KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS
  • SIEMENS-I-SYNDROME
  • GENE MAPPING
  • X-LINKED INHERITANCE
  • CARRIER DETECTION
  • CORNEA DEGENERATION

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