FIELD: molecular biology.
SUBSTANCE: described is a method for diagnosing carriage of a mutant gene PDXK with a mutation c.659G>A (p.Arg220Gln), leading to hereditary motor-sensory neuropathy of 6C type with autosomal recessive type of inheritance in Yakut population, by molecular-genetic analysis by means of polymerase chain reaction. Method involves amplification of genomic DNA using primers.
EFFECT: more reliable diagnosis for the presence or absence of a heterozygous/homozygous mutation c.659G>A (p.Arg220Gln) in chromosome 21 of the PDXK gene.
1 cl, 4 dwg, 1 ex
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