Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Aug;29(8):568–570. doi: 10.1136/jmg.29.8.568

Linkage of epidermolysis bullosa simplex to keratin gene loci.

K E McKenna 1, A E Hughes 1, E A Bingham 1, N C Nevin 1
PMCID: PMC1016064  PMID: 1381443

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.

Full text

PDF
568

Images in this article

569Image
on p.569
569Image
on p.569

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anton-Lamprecht I., Schnyder U. W. Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica. 1982 Apr;164(4):221–235. [PubMed] [Google Scholar]
  2. Baker R., Lynch J., Ferguson L., Priestley L., Sykes B. PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2. Nucleic Acids Res. 1991 Aug 11;19(15):4315–4315. doi: 10.1093/nar/19.15.4315. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bonifas J. M., Rothman A. L., Epstein E. H., Jr Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science. 1991 Nov 22;254(5035):1202–1205. doi: 10.1126/science.1720261. [DOI] [PubMed] [Google Scholar]
  4. Coulombe P. A., Hutton M. E., Letai A., Hebert A., Paller A. S., Fuchs E. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell. 1991 Sep 20;66(6):1301–1311. doi: 10.1016/0092-8674(91)90051-y. [DOI] [PubMed] [Google Scholar]
  5. Daly M. E., Perry D. J. DdeI polymorphism in intron 5 of the ATIII gene. Nucleic Acids Res. 1990 Sep 25;18(18):5583–5583. doi: 10.1093/nar/18.18.5583. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Fuchs E. V., Coppock S. M., Green H., Cleveland D. W. Two distinct classes of keratin genes and their evolutionary significance. Cell. 1981 Nov;27(1 Pt 2):75–84. doi: 10.1016/0092-8674(81)90362-7. [DOI] [PubMed] [Google Scholar]
  7. Gedde-Dahl T., Jr Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis. Acta Derm Venereol Suppl (Stockh) 1981;95:74–87. [PubMed] [Google Scholar]
  8. Haneke E., Anton-Lamprecht I. Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol. 1982 Mar;78(3):219–223. doi: 10.1111/1523-1747.ep12506502. [DOI] [PubMed] [Google Scholar]
  9. Humphries M. M., Sheils D., Lawler M., Farrar G. J., McWilliam P., Kenna P., Bradley D. G., Sharp E. M., Gaffney E. F., Young M. Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form. Genomics. 1990 Jul;7(3):377–381. doi: 10.1016/0888-7543(90)90171-p. [DOI] [PubMed] [Google Scholar]
  10. Ito M., Okuda C., Shimizu N., Tazawa T., Sato Y. Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study. Arch Dermatol. 1991 Mar;127(3):367–372. [PubMed] [Google Scholar]
  11. Kitajima Y., Inoue S., Yaoita H. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch Dermatol Res. 1989;281(1):5–10. doi: 10.1007/BF00424265. [DOI] [PubMed] [Google Scholar]
  12. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Miller S. J. Biology of basal cell carcinoma (Part I). J Am Acad Dermatol. 1991 Jan;24(1):1–13. doi: 10.1016/0190-9622(91)70001-i. [DOI] [PubMed] [Google Scholar]
  14. Mulley J. C., Nicholls C. M., Propert D. N., Turner T., Sutherland G. R. Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type. Am J Med Genet. 1984 Nov;19(3):573–577. doi: 10.1002/ajmg.1320190320. [DOI] [PubMed] [Google Scholar]
  15. Nelson W. G., Sun T. T. The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies. J Cell Biol. 1983 Jul;97(1):244–251. doi: 10.1083/jcb.97.1.244. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Rosenberg M., Fuchs E., Le Beau M. M., Eddy R. L., Shows T. B. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet Cell Genet. 1991;57(1):33–38. doi: 10.1159/000133109. [DOI] [PubMed] [Google Scholar]
  17. Rosenberg M., RayChaudhury A., Shows T. B., Le Beau M. M., Fuchs E. A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol. 1988 Feb;8(2):722–736. doi: 10.1128/mcb.8.2.722. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Ryynänen M., Knowlton R. G., Uitto J. Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am J Hum Genet. 1991 Nov;49(5):978–984. [PMC free article] [PubMed] [Google Scholar]
  19. Vassar R., Coulombe P. A., Degenstein L., Albers K., Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell. 1991 Jan 25;64(2):365–380. doi: 10.1016/0092-8674(91)90645-f. [DOI] [PubMed] [Google Scholar]
  20. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]
  21. Wu S., Seino S., Bell G. I. Human collagen, type II, alpha 1, (COL2A1) gene: VNTR polymorphism detected by gene amplification. Nucleic Acids Res. 1990 May 25;18(10):3102–3102. doi: 10.1093/nar/18.10.3102-a. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES