Article
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.
Human genetics - 1 Apr 1994
Davies G E, Howard C M, Farrer M J, Coleman M M, Cullen L M, Williamson R, Wyse R K, Kessling A M
Abstract excerpt
Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital heart defects and 21 without) and 37 unrelated volunteers. We found seven unusual genotypes in the parents of affected...
Topics
- Child
- Collagen
- Down Syndrome
- Genotype
- Heart Defects, Congenital
- Humans
- Polymorphism, Restriction Fragment Length