Article
Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.
American journal of medical genetics - 5 Jun 1995
Mitchison H M, O'Rawe A M, Lerner T J, Taschner P E, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips H A, Thompson A D
Abstract excerpt
Haplotype analysis in a collaborative collection of 143 families with juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten (Spielmeyer-Vogt-Sjögren) disease has permitted refined localization of the disease gene, CLN3, which was assigned to chromosome 16 in 1989. Recombination events in...
Topics
- Adult
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Crossing Over, Genetic
- Family
- Female
- Genetic Markers
- Genetic Variation
- Haplotypes
- Humans
- Linkage Disequilibrium
- Lod Score
- Male