Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
| Autor: | Edwin M. Stone, Christine M. Taylor, Adam B. Kanis, Ali A. Al-Rajhi, Darryl Y. Nishimura, Val C. Sheffield, Robert Folberg, William D. Mathers |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Genotype Genetic Linkage Chromosomes Human Pair 20 Genes Recessive Locus (genetics) Biology Corneal Diseases Genetic linkage medicine Humans Genetics (clinical) Genes Dominant Corneal Dystrophies Hereditary Family Health Genetics Endothelium Corneal Chromosome Mapping Dystrophy medicine.disease eye diseases Pedigree Ophthalmology Haplotypes Genetic marker Pediatrics Perinatology and Child Health Female sense organs Lod Score Chromosome 20 Congenital hereditary endothelial dystrophy Microsatellite Repeats |
| Zdroj: | Ophthalmic Genetics. 20:243-249 |
| ISSN: | 1744-5094 1381-6810 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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