Summary
In 16 families with myotonic dystrophy (DM) a novel approach based on use of allele-specific oligonucleotides has been employed to study the linkage relationship between the apolipoprotein E (APOE) gene and DM. Synthetic oligonucleotides, designed to discriminate between APOE alleles ε3 and ε4, enabled us to distinguish heterozygous carriers in a hybridization assay. In a subset of families, the relevant segment of the APOE gene was enzymatically amplified to increase the sensitivity of the method. For DM and APOE, a maximum lod score (zmax of 7.47 was obtained at a recombination frequency (θ) of 0.047 (male θ=female θ). No recombination (maximum lod score of 5.61 at θ=0.0) was found between APOE and the apolipoprotein CII (APOC2) gene. These results suggest that, in addition to APOC2, APOE is a useful marker for presymptomatic DM diagnosis.
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Smeets, B., Poddighe, J., Brunner, H. et al. Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides. Hum Genet 80, 49–52 (1988). https://doi.org/10.1007/BF00451455
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DOI: https://doi.org/10.1007/BF00451455