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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Mar;32(3):224–226. doi: 10.1136/jmg.32.3.224

Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.

C Y Gregory 1, K Evans 1, S S Bhattacharya 1
PMCID: PMC1050323  PMID: 7783175

Abstract

Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.

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Selected References

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

  1. Donders P. C., Blanksma L. J. Meretoja syndrome. Lattice dystrophy of the cornea with hereditary generalized amyloidosis. Ophthalmologica. 1979;178(3):173–180. doi: 10.1159/000308818. [DOI] [PubMed] [Google Scholar]
  2. Evans K., Fryer A., Inglehearn C., Duvall-Young J., Whittaker J. L., Gregory C. Y., Butler R., Ebenezer N., Hunt D. M., Bhattacharya S. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet. 1994 Feb;6(2):210–213. doi: 10.1038/ng0294-210. [DOI] [PubMed] [Google Scholar]
  3. Holland E. J., Daya S. M., Stone E. M., Folberg R., Dobler A. A., Cameron J. D., Doughman D. J. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology. 1992 Oct;99(10):1564–1568. doi: 10.1016/s0161-6420(92)31766-x. [DOI] [PubMed] [Google Scholar]
  4. Kivlin J. D., Lovrien E. W., Maumenee I. H., Bishop D. T., Bias W. Linkage analysis in lattice corneal dystrophy. Am J Med Genet. 1984 Oct;19(2):387–390. doi: 10.1002/ajmg.1320190222. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Ridgway A. E. Superficial granular corneal dystrophy with amyloid deposits. Arch Ophthalmol. 1993 Jul;111(7):901–901. doi: 10.1001/archopht.1993.01090070019006. [DOI] [PubMed] [Google Scholar]
  7. Rosenwasser G. O., Sucheski B. M., Rosa N., Pastena B., Sebastiani A., Sassani J. W., Perry H. D. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol. 1993 Nov;111(11):1546–1552. doi: 10.1001/archopht.1993.01090110112035. [DOI] [PubMed] [Google Scholar]
  8. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  9. Szubryt S. R., Neuman W. L., Westbrook C. A. Dinucleotide repeat polymorphism at the D5S178 locus. Hum Mol Genet. 1993 Jan;2(1):90–90. doi: 10.1093/hmg/2.1.90-a. [DOI] [PubMed] [Google Scholar]
  10. de la Chapelle A., Tolvanen R., Boysen G., Santavy J., Bleeker-Wagemakers L., Maury C. P., Kere J. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 1992 Oct;2(2):157–160. doi: 10.1038/ng1092-157. [DOI] [PubMed] [Google Scholar]

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