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 D Mathers; Robert Folberg; Darryl Y Nishimura; Val C Sheffield; Edwin M Stone

doi:10.1076/opge.20.4.243.2273

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

Journal article

Peer reviewed

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 D Mathers, Robert Folberg, Darryl Y Nishimura, Val C Sheffield and Edwin M Stone

Ophthalmic genetics, Vol.20(4), pp.243-249

12/1999

DOI: 10.1076/opge.20.4.243.2273

PMID: 10617922

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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 20 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.

Haplotypes

Humans

Corneal Dystrophies, Hereditary - genetics

Family Health

Genotype

Male

Chromosome Mapping

Genes, Recessive

Lod Score

Endothelium, Corneal - abnormalities

Corneal Diseases - genetics

Corneal Dystrophies, Hereditary - pathology

Genes, Dominant

Pedigree

Female

Corneal Diseases - pathology

Microsatellite Repeats

Chromosomes, Human, Pair 20 - genetics

Genetic Linkage

Details

Title: Subtitle: Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
Creators: Adam B Kanis - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Ali A Al-Rajhi
Christine M Taylor
William D Mathers
Robert Folberg
Darryl Y Nishimura
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Ophthalmic genetics, Vol.20(4), pp.243-249
DOI: 10.1076/opge.20.4.243.2273
PMID: 10617922
NLM abbreviation: Ophthalmic Genet
ISSN: 1381-6810
eISSN: 1744-5094
Publisher: England
Grant note: EY11543 / NEI NIH HHS
Language: English
Date published: 12/1999
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980298802771

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