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A new biallelic DNA polymorphism of the human COL5A1 gene

✍ Scribed by Francesca Cappa; Gianluca Caridi; Giorgio Gimelli; Gian Marco Ghiggeri


Publisher
Springer
Year
1995
Tongue
English
Weight
97 KB
Volume
95
Category
Article
ISSN
0340-6717

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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.

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A 353-bp region encoding for the NH2 terminus of the noncollagenic part of the alpha 1(V) chain was amplified by the polymerase chain reaction (PCR), subcloned and sequenced. The subcloned PCR product (pGC1) presented the same nucleotide sequence as the original fragment from the published sequence