[Allelic polymorphism and analysis of haplotypes of the muscle protein kinase genes and haplotype analysis in residents of northwestern Russia and patients with myotonic dystrophy].

Abstract excerpt

The distribution of alleles with various CTG-repeat numbers was studied and the haplotypes for polymorphic sites HhaI and HinfI of mouse muscle protein kinase (DMPK) were analyzed in inhabitants of northwestern Russia and in patients with myotonic dystrophy (90 and 18 chromosomes, respectively). Twelve normal alleles with the triplet-repeat number from 5 to 24 were identified and the alleles with five (42.5%) and...

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