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Literature DB >> 8544196

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

J C Oosterwijk¹, M J van der Wielen, E van de Vosse, E Voorhoeve, E Bakker.

Abstract

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.

Entities: Disease Gene

Mesh：

Substances：
DNA

Year: 1995 PMID： 8544196 PMCID： PMC1051677 DOI： 10.1136/jmg.32.9.736

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

16 in total

1. [Corneal manifestations in keratosis follicularis spinulosa decalvans (Siemens)].

Authors: A FRANCESCHETTI; M JACCOTTET; W JADASSOHN
Journal: Ophthalmologica Date: 1957 Apr-May Impact factor: 3.250

2. Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990).

Authors: B J Keats; S L Sherman; N E Morton; E B Robson; K H Buetow; P E Cartwright; A Chakravarti; U Francke; P P Green; J Ott
Journal: Genomics Date: 1991-03 Impact factor: 5.736

3. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

Authors: P R Clemens; R G Fenwick; J S Chamberlain; R A Gibbs; M de Andrade; R Chakraborty; C T Caskey
Journal: Am J Hum Genet Date: 1991-11 Impact factor: 11.025

4. Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci.

Authors: D Browne; D Barker; M Litt
Journal: Hum Mol Genet Date: 1992-06 Impact factor: 6.150

5. Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities?

Authors: A P Oranje; L D van Osch; J C Oosterwijk
Journal: Arch Dermatol Date: 1994-04

6. Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

Authors: P S Rowe; J Goulding; A Read; H Lehrach; F Francis; A Hanauer; C Oudet; V Biancalana; S W Kooh; K E Davies
Journal: Hum Genet Date: 1994-03 Impact factor: 4.132

7. Easy calculations of lod scores and genetic risks on small computers.

Authors: G M Lathrop; J M Lalouel
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

8. Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Authors: J C Oosterwijk; M Nelen; P M van Zandvoort; L D van Osch; A P Oranje; D Wittebol-Post; B A van Oost
Journal: Am J Hum Genet Date: 1992-04 Impact factor: 11.025

4. High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.

Authors: E Van de Vosse; P Van der Bent; J J Heus; G J Van Ommen; J T Den Dunnen
Journal: Mamm Genome Date: 1997-07 Impact factor: 2.957

4 in total

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

1. [Corneal manifestations in keratosis follicularis spinulosa decalvans (Siemens)].

2. Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990).

3. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

4. Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci.

5. Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities?

6. Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

7. Easy calculations of lod scores and genetic risks on small computers.

8. Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

9. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.

10. A high resolution deletion map of human chromosome Xp22.

Review 1. The pathogenesis of primary cicatricial alopecias.

2. [Keratosis follicularis spinulosa decalvans].

3. Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

4. High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.