Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family

J C Oosterwijk; M Nelen; P M Van Zandvoort; L D Van Osch; A P Oranje; D Wittebol-Post; B A Van Oost

doi:10.3109/13816819209070050

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family

Ophthalmic Paediatr Genet. 1992 Mar;13(1):27-30. doi: 10.3109/13816819209070050.

Authors

J C Oosterwijk¹, M Nelen, P M Van Zandvoort, L D Van Osch, A P Oranje, D Wittebol-Post, B A Van Oost

Affiliation

¹ Clinical Genetics Center Utrecht, The Netherlands.

PMID: 1350668
DOI: 10.3109/13816819209070050

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.

MeSH terms

Chromosome Mapping
DNA / analysis
DNA Probes
Darier Disease / genetics*
Female
Genetic Carrier Screening
Genetic Linkage / genetics*
Humans
Lod Score
Male
Netherlands
Pedigree
Polymorphism, Restriction Fragment Length
X Chromosome*

Substances

DNA Probes
DNA