Article
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
American journal of medical genetics - 22 Aug 1997
Innis J W, Asher J H, Liang Y, Wang A, Wilke C M, Dierick H A, Kazen-Gillespie K, Sheldon S, Glover T W, Friedman T B
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the disease by cytogenetic localization and genetic recombination. CCD was linked with a maximal two-point LOD score of 7.22...
Topics
- Bone Morphogenetic Protein 6
- Bone Morphogenetic Proteins
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- Cleidocranial Dysplasia
- DNA Primers
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Lod Score
- Male