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Literature DB >> 1381443

Linkage of epidermolysis bullosa simplex to keratin gene loci.

K E McKenna¹, A E Hughes, E A Bingham, N C Nevin.

Abstract

Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder characterised by intraepidermal blistering of the skin. Two families with Weber-Cockayne EBS have been analysed for linkage to keratin gene loci. In the first family, linkage was found to chromosome 17 markers flanking the keratin 14 gene (D17S74: Zmax = +2.45, theta = 0.10; COL1A1: Zmax = +0.97, theta = 0.00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17: Z less than -2.0, theta = 0.08; COL2A1: Z less than -2.0, theta = 0.13). In contrast, the second family showed linkage to the region containing the keratin 5 gene (D12S17: Zmax = +1.37, theta = 0.08; COL2A1: Zmax = +0.33, theta = 0.15) and was not linked to the keratin 14 gene (D17S74: Z less than -2.0, theta = 0.14). The Weber-Cockayne form of EBS is genetically heterogeneous with linkage to different keratin gene loci.

Entities: Chemical Disease Gene

Mesh：

Substances：
Keratins

Year: 1992 PMID： 1381443 PMCID： PMC1016064 DOI： 10.1136/jmg.29.8.568

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

21 in total

1. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

Authors: J M Bonifas; A L Rothman; E H Epstein
Journal: Science Date: 1991-11-22 Impact factor: 47.728

2. Human collagen, type II, alpha 1, (COL2A1) gene: VNTR polymorphism detected by gene amplification.

Authors: S Wu; S Seino; G I Bell
Journal: Nucleic Acids Res Date: 1990-05-25 Impact factor: 16.971

3. Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.

Authors: M M Humphries; D Sheils; M Lawler; G J Farrar; P McWilliam; P Kenna; D G Bradley; E M Sharp; E F Gaffney; M Young
Journal: Genomics Date: 1990-07 Impact factor: 5.736

4. Two distinct classes of keratin genes and their evolutionary significance.

Authors: E V Fuchs; S M Coppock; H Green; D W Cleveland
Journal: Cell Date: 1981-11 Impact factor: 41.582

5. Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis.

Authors: T Gedde-Dahl
Journal: Acta Derm Venereol Suppl (Stockh) Date: 1981

6. Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne.

Authors: E Haneke; I Anton-Lamprecht
Journal: J Invest Dermatol Date: 1982-03 Impact factor: 8.551

Linkage of epidermolysis bullosa simplex to keratin gene loci.

1. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

2. Human collagen, type II, alpha 1, (COL2A1) gene: VNTR polymorphism detected by gene amplification.

3. Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.

4. Two distinct classes of keratin genes and their evolutionary significance.

5. Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis.

6. Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne.

7. Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis.

8. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex.

9. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.

10. Strategies for multilocus linkage analysis in humans.

1. The eye in epidermolysis bullosa.

2. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.