دورية
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1)
| العنوان: | Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg |
|---|---|
| المؤلفون: | Williams, Charlene J., Considine, Eileen L., Knowlton, Robert G., Reginato, Antonio, Neumann, Guillermo, Harrison, David, Buxton, Paul, Jimenez, Sergio, Prockop, Darwin J. |
| المصدر: | Human Genetics; November 1993, Vol. 92 Issue: 5 p499-505, 7p |
| مستخلص: | Direct sequencing of polymerase chain reaction (PCR)-amplified genomic DNA from a patient with spondyloepiphyseal dysplasia and precocious osteoarthritis revealed a single-base change in exon 11 of the type II procollagen gene (COL2A1), which produces an Arg→ Cys mutation in one allele. The proband is a member of a large Chilean kindred presenting with chondrodysplasia of the hips, knees, shoulders, elbows, and spine associated with severe, early-onset osteoarthritis. All affected individuals exhibit mildly short stature; in addition, five out of seven affected family members display shortened metacarpals or metatarsals. DNA from affected and unaffected family members was PCR-amplified and analysis of restriction digests of the products determined that the mutation segregated with the disease with a lod score of 2.2 at zero recombination. The mutation, which resides in the triple-helical region of type II procollagen at amino acid position 75, is the second example of an Arg→Cys mutation in the COL2A1 gene in heritable cartilaginous disease and is the first example of a point mutation in the amino terminal region of the α1(II) chain, that results in a spondyloepiphyseal dysplastic phenotype. |
| قاعدة البيانات: | Supplemental Index |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 03406717 14321203 |
|---|---|
| DOI: | 10.1007/BF00216458 |