Article
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.
American journal of medical genetics - 22 Nov 2001
Tanamy M G, Magal N, Halpern G J, Jaber L, Shohat M
Abstract excerpt
Arthrogryposis multiplex congenita (AMC) is a heterogeneous symptom complex characterized by non-progressive joint contractures from birth that involve more than one part of the body. In 1997, our group investigated a large Israeli Arab inbred kindred that showed autosomal recessive inheritance of AMC neuropathic type, and we mapped the gene to 5qter between markers D5S1456 and D5S498. Haplotype sharing studies...
Topics
- Alleles
- Arthrogryposis
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Expressed Sequence Tags
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Homozygote
- Humans
- Lod Score
- Microsatellite Repeats
- Models, Genetic
- Mutation
- Physical Chromosome Mapping
- Recombination, Genetic