Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
| Autor: | Eyre, S., Roby, P., Wolstencroft, K., Spreckley, K., Aspinwall, R., Bayoumi, R., Al-Gazali, L., Rajkumar Ramesar, Beighton, P., Gleghorn, L., Wallis, G. |
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| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Spondyloepiphyseal dysplasia
Male Candidate gene Genotype Genetic Linkage Dwarfism Locus (genetics) Biology Osteochondrodysplasias Polymorphism Single Nucleotide Multiple epiphyseal dysplasia Chromosome 15 Genetic linkage Correspondence Genetics medicine Humans Genetic Predisposition to Disease Lectins C-Type Aggrecans Genetics (clinical) Family Health Chromosomes Human Pair 15 Extracellular Matrix Proteins Chromosome Mapping medicine.disease Osteochondrodysplasia Pedigree Phenotype Chondroitin Sulfate Proteoglycans Original Article Female Proteoglycans Microsatellite Repeats |
| Zdroj: | Publons Scopus-Elsevier Europe PubMed Central |
| Popis: | We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers D15S979 and D15S1004. According to current linkage maps and sequence data, this locus includes that of the aggrecan gene (AGC1). Our linkage data from the SED family show, however, that AGC1 maps to a locus that is proximal to D15S979. This proximal location for AGC1 is further supported by linkage data from a second family with an autosomal recessive form of multiple epiphyseal dysplasia that also maps to the SED locus. In both families AGC1 is therefore excluded as a candidate gene. |
| Databáze: | OpenAIRE |
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