The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
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.
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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CA
Francomano
G R
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Cutting
M K
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McCormick
M L
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Chu
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Timpl
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Hong
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Antonarakis
D015139:Blotting, Southern; D002891:Chromosomes, Human, Pair 21; D003094:Collagen / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
D005819:Genetic Markers; D003094:Collagen