Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome |
| |
| Authors: | G. E. Davies C. M. Howard L. M. Gorman M. J. Farrer A. J. Holland R. Williamson A. M. Kessling |
| |
| Affiliation: | (1) Dept. of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, W2 1PG London, UK;(2) Institute of Psychiatry, De Crespigny Park, SE5 8AZ London, UK |
| |
| Abstract: | The COL6A1 and COL6A2 (collagen VI) gene cluster on chromosome 21 is a candidate region for defects leading to congenital heart anomalies in Down's syndrome. We report a variable number of tandem repeats (VNTR) and a restriction fragment length polymorphism (RFLP) in this gene region, detected using a COL6A1 cDNA probe. Linkage disequilibrium relationships were studied among the RFLPs of this gene cluster. The RFLP reported here shows no significant linkage disequilibrium with any others in the region. It has a polymorphism information content value of 0.27, raising the informativity of the locus. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
