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

作者信息

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

机构信息

Clinical Genetics Center Utrecht, The Netherlands.

出版信息

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

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.