Article
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
Nature genetics - 1 Jun 1993
Blumenfeld A, Slaugenhaupt S A, Axelrod F B, Lucente D E, Maayan C, Liebert C B, Ozelius L J, Trofatter J A, Haines J L, Breakefield X O
Abstract excerpt
Familial dysautonomia (DYS), the Riley-Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and autonomic nervous system. It is limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. We have mapped the DYS ge...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Dysautonomia, Familial
- Female
- Fetal Diseases
- Gene Frequency
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Incidence
- Jews
- Linkage Disequilibrium
- Lod Score