Article
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
American journal of human genetics - 1 Apr 1999
Blumenfeld A, Slaugenhaupt S A, Liebert C B, Temper V, Maayan C, Gill S, Lucente D E, Idelson M, MacCormack K, Monahan M A, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod F B, Gusella J F
Abstract excerpt
Familial dysautonomia (FD) is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and by Ashkenazi Jewish ancestry. We previously had mapped the defective gene (DYS) to an 11-cM segment of chromosome 9q31-33, flanked by D9S53 and D9S105. By using 11 new polymorphic loci, we now have narrowed the location of DYS to <0.5 cM between the markers 43B1GAGT...
Topics
- Alleles
- Autonomic Nervous System Diseases
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Female
- Founder Effect
- Gene Frequency
- Genetic Linkage
- Genetic Markers
- Genetic Testing