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Usefulness of chromosome 19 RFLP haplotypes in the diagnosis of myotonic dystrophy
Author(s) -
Nokelainen Pekka T.,
AlanenKurki Leena,
Somer Hannu V. K.,
Pihko S. Helena,
Peltonen Leena
Publication year - 1991
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880140511
Subject(s) - myotonic dystrophy , restriction fragment length polymorphism , haplotype , genetics , linkage disequilibrium , biology , population , genetic linkage , genotype , medicine , gene , environmental health
Three DNA probes (APOC2, PSC11, and LDR152) detecting RFLP polymorphisms were used to test the usefulness of the RFLP approach in myotonic dystrophy (MD) families from the isolated Finnish population. The informativeness of these polymorphisms did not differ from that reported in more mixed populations: in the 13 families of the study most of the 79 meiotic events studied were informative. One known recombinant is included in the study. The highest lod score obtained in the multilocus linkage analysis was z = 5.941 at recombination fraction θ = 0.02. The RFLP results significantly facilitated genetic counseling in problematic cases among the families studied. Although evidence could be found for linkage disequilibrium of the RFLP haplotypes formed in Finnish MD patients, our results do not exclude the possible existence of more than one ancient MD mutation in this population.