Article
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.
Pediatric research - 1 Sept 1994
Finegold D N, Armitage M M, Galiani M, Matise T C, Pandian M R, Perry Y M, Deka R, Ferrell R E
Abstract excerpt
A large family in which hypoparathyroidism was observed to segregate as an autosomal dominant trait in three generations was identified. Mutation in the PTH gene was excluded by linkage and single-stranded conformational analysis. The hypocalcemic phenotype in this family was mapped by linkage analysis using short, tandem-repeat polymorphisms to the region of chromosome 3q13. A maximum lod score of 2.71 at theta...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Genes, Dominant
- Genetic Code
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Hypoparathyroidism
- Infant
- Male