DNA Polymorphism and Linkage Disequilibrium within the Apolipoprotein CII Locus on Human Chromosome 19
- 1 January 1991
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 41 (3) , 188-194
- https://doi.org/10.1159/000153999
Abstract
The gene for human apolipoprotein CII (APOCII) is located on the proximal long arm of chromosome 19. It has been established as a closely linked marker for myotonic dystrophy (DM), the most common form of adult muscular dystrophy. In the present linkage study, we have analysed 6 APOCII RFLPs in 213 haplotypes: TaqI, 3.8/3.5 kb; BgII, 12.0/9.0 kb; BanI, 2.5/1.6 kb; BamHI, 6.0/4.9 kb; NcoI, 14.5/11.5 kb, and Avail, 0.6/0.4 kb. The polymorphic enzyme sites were determined to be present at the following frequencies: TaqI, 0.43; Bgll, 0.51; BanI, 0.25; BamHI, 0.99; Ncol, 0.51, and AvaII, 0.52. Ordering of the polymorphic sites, 5’→3’, has been determined to be (NcoI-BgII)-AvaΙI-BanΙ-TaqΙ. Significant disequilibrium was seen between 5 of the APOCII RFLPs.Keywords
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