volume 17 Number 3 1989
Nucleic Acids Research
An Ncol RFLP associated with the gene encoding the a-3 chain of human type VI collagen
(COL6A3)
D.Brotherton, M.-L.Chu 1 , S.E.Humphries and A.M.Henney
Charing Cross Sunley Research Centre, London W6 8LW, UK and 'Department of Biochemistry and Molecular
Biology, Jefferson Institute of Molecular Medicine, Philadelphia, PA 19107, USA
Source/Description - P24 is a human type VI collagen cDNA clone. It is
1.5 kb long and 1 B excised by digestion with EcoRI as described by
Chu et al (1).
Polyorphism - Four constant bands are seen at 3.9, 3.4, 2.4 and 1.9 kb.
The variable site causes a 5.5 kb fragment to be divided into 3.85 and
1.65 kb fragments (Fig. 1 ) .
Frequency - In 50 random individuals from London allele 1 had a frequency
of 0.56 and allele 2 0.44. The calculated P.I.C. was 0.37.
Wot polymorphic for StuI, BspNI, Ddel, Hphl, TaqI, Sphl, Avail, Hpal,
ApaLI, KpnI.
Chromosomal localisation - COL6A3 has been mapped to chromosome 2q37 (2).
Mendelian inheritance — demonstrated in three families.
Probe availability - from Dr. Bon-Li Chu with some restrictions.
Other comments - Detection of the polymorphism is simplified by further
digestion of the EcoRI insert by PvuII, taking a 600 bp fragment as the
probe. This removes all interfering constant bands (Fig. 2 ) .
References - 1. Chu et al (1987) Eur.J•Biochem. 68: 3O9.
al (1988) Am.J.Hum.Genet. 42: 435-445.
2. Weil et
Acknowledgements - The authors are grateful to the British Heart
Foundation and the Afcthritis AnRheumatism Council for Financial support.
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