Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type |
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| Authors: | A. A. B. Bergen C. Samanns E. J. M. Schuurman L. van Osch D. B. van Dorp A. J. L. G. Pinckers E. Bakker A. Gal G. J. B. van Ommen E. M. Bleeker-Wagemakers |
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| Affiliation: | (1) Department of Medicine, The Johns Hopkins University School of Medicine, 21205 Baltimore, MD, USA;(2) Department of Pediatrics, The Johns Hopkins University School of Medicine, 21205 Baltimore, MD, USA;(3) Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, 19107 Philadelphia, PA, USA;(4) Max-Planck-Institut für Biochemie, W-8033 Martinsried, Federal Republic of Germany;(5) CMSC 8-108 Johns Hopkins Hospital, 600 N. Wolfe Street, 21205 Baltimore, MD, USA |
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| Abstract: | Summary 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. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21. |
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