Article
Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Tang Yongming G, Rabinowitz Yaron S, Taylor Kent D, Li Xiaohui, Hu Mingshu, Picornell Yoana, Yang Huiying
Abstract excerpt
PURPOSE: Keratoconus is a corneal dystrophy with an incidence of 1 in 2000 and a leading cause for cornea transplantation in Western developed countries. Both clinical observations and segregation analyses suggest a major role for genes in its pathogenesis. It is genetically heterogeneous, most commonly sporadic, but inherited patterns with recessive or dominant modes have also been reported. We studied a...
Topics
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Female
- Gene Frequency
- Genetic Linkage
- Genetic Markers
- Genetic Predisposition to Disease
- Genome, Human
- Genotype