Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
| Autor: | Nollaig A. Parfrey, Collette K. Hand, J. S. Fitzsimon, M. Callaghan, L. M. T. Collum, S. M. Kennedy |
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| Rok vydání: | 1999 |
| Předmět: |
Corneal Dystrophies
Hereditary Male Genetics Polymorphism Genetic Homozygote Chromosome Mapping Dystrophy Corneal dystrophy Biology Disease gene identification medicine.disease Genetic analysis Sensory Systems Genetic determinism Pedigree Cellular and Molecular Neuroscience Ophthalmology Genetic linkage Original articles - Laboratory science medicine Humans Female Congenital hereditary endothelial dystrophy Chromosome 20 Microsatellite Repeats |
| Zdroj: | British Journal of Ophthalmology. 83:115-119 |
| ISSN: | 0007-1161 |
| DOI: | 10.1136/bjo.83.1.115 |
| Popis: | BACKGROUND—Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS—The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS—Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION—This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD. Keywords: congenital hereditary endothelial dystrophy; homozygosity mapping; posterior polymorphous dystrophy; linkage analysis |
| Databáze: | OpenAIRE |
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