The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21.
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
โ Scribed by G. E. Davies; C. M. Howard; L. M. Gorman; M. J. Farrer; A. J. Holland; R. Williamson; A. M. Kessling
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 665 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0340-6717
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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 hear
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