Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

Adam B. Kanis, Ali A. Al-Rajhi, Christine M. Taylor, William Mathers, Robert Folberg, Darryl Y. Nishimura, Val C. Sheffield, Edwin M. Stone

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Congenital hereditary endothelial dystrophy (CHED) is a disorder of the corneal endothelium and has been recognized to segregate in families with both autosomal dominant (AD) and autosomal recessive (AR) modes of transmission. AD-CHED has been previously linked to the pericentric region of chromosome 20. Posterior polymorphous dystrophy (PPMD), a corneal endothelial disorder showing phenotypic overlap with CHED, has also been previously genetically mapped to this region. The genetic interval containing AD-CHED is within the larger genetic interval containing the PPMD locus. This study sought to determine whether AR-CHED segregating in a consanguineous Saudi Arabian pedigree is linked to the previously mapped and overlapping loci for AD-CHED and PPMD on the pericentric region of chromosome 20. Forty members of a consanguineous Saudi Arabian pedigree segregating AR-CHED were ascertained. Short tandem-repeat polymorphic markers from the 20 cM interval on chromosome to containing both the PPMD and AD-CHED loci were used to genotype these individuals. LOD score analysis of the genotype data with the MENDEL software package utilizing a model of autosomal recessive inheritance with complete penetrance showed exclusion of CHED from the entire PPMD/AD-CHED interval by utilizing overlapping intervals of LOD scores of at least -2. The results obtained demonstrate that AR-CHED is not allelic to either AD-CHED or PPMD, although it has been proposed that AD-CHED may be allelic to PPMD. Thus, there are at least two genes responsible for CHED and PPMD.

Original languageEnglish (US)
Pages (from-to)243-249
Number of pages7
JournalOphthalmic Genetics
Volume20
Issue number4
StatePublished - 1999
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 20
Pedigree
Genotype
Corneal Endothelium
Penetrance
Microsatellite Repeats
Software
Chromosomes
Genes
Corneal Dystrophy, Posterior Polymorphous, 1

Keywords

  • Chromosome 20
  • Congenital heredity endothelial dystrophy
  • Linkage analysis

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Kanis, A. B., Al-Rajhi, A. A., Taylor, C. M., Mathers, W., Folberg, R., Nishimura, D. Y., ... Stone, E. M. (1999). Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genetics, 20(4), 243-249.

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. / Kanis, Adam B.; Al-Rajhi, Ali A.; Taylor, Christine M.; Mathers, William; Folberg, Robert; Nishimura, Darryl Y.; Sheffield, Val C.; Stone, Edwin M.

In: Ophthalmic Genetics, Vol. 20, No. 4, 1999, p. 243-249.

Research output: Contribution to journalArticle

Kanis, AB, Al-Rajhi, AA, Taylor, CM, Mathers, W, Folberg, R, Nishimura, DY, Sheffield, VC & Stone, EM 1999, 'Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci', Ophthalmic Genetics, vol. 20, no. 4, pp. 243-249.
Kanis AB, Al-Rajhi AA, Taylor CM, Mathers W, Folberg R, Nishimura DY et al. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genetics. 1999;20(4):243-249.
Kanis, Adam B. ; Al-Rajhi, Ali A. ; Taylor, Christine M. ; Mathers, William ; Folberg, Robert ; Nishimura, Darryl Y. ; Sheffield, Val C. ; Stone, Edwin M. / Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. In: Ophthalmic Genetics. 1999 ; Vol. 20, No. 4. pp. 243-249.
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AU - Al-Rajhi, Ali A.

AU - Taylor, Christine M.

AU - Mathers, William

AU - Folberg, Robert

AU - Nishimura, Darryl Y.

AU - Sheffield, Val C.

AU - Stone, Edwin M.

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AB - Congenital hereditary endothelial dystrophy (CHED) is a disorder of the corneal endothelium and has been recognized to segregate in families with both autosomal dominant (AD) and autosomal recessive (AR) modes of transmission. AD-CHED has been previously linked to the pericentric region of chromosome 20. Posterior polymorphous dystrophy (PPMD), a corneal endothelial disorder showing phenotypic overlap with CHED, has also been previously genetically mapped to this region. The genetic interval containing AD-CHED is within the larger genetic interval containing the PPMD locus. This study sought to determine whether AR-CHED segregating in a consanguineous Saudi Arabian pedigree is linked to the previously mapped and overlapping loci for AD-CHED and PPMD on the pericentric region of chromosome 20. Forty members of a consanguineous Saudi Arabian pedigree segregating AR-CHED were ascertained. Short tandem-repeat polymorphic markers from the 20 cM interval on chromosome to containing both the PPMD and AD-CHED loci were used to genotype these individuals. LOD score analysis of the genotype data with the MENDEL software package utilizing a model of autosomal recessive inheritance with complete penetrance showed exclusion of CHED from the entire PPMD/AD-CHED interval by utilizing overlapping intervals of LOD scores of at least -2. The results obtained demonstrate that AR-CHED is not allelic to either AD-CHED or PPMD, although it has been proposed that AD-CHED may be allelic to PPMD. Thus, there are at least two genes responsible for CHED and PPMD.

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