DNA-DIAGNOSIS OF BULBOSPINAL MUSCULAR-ATR OPHY (KENNEDYS-DISEASE)

Bulbospinal muscular atrophy - a rare disease with X-linked recessive type of inheritance. It is caused by expansion of trinucleotide repeti tions in the gene of androgenic receptor (AR). We elaborated a method of DNA-testing with usage of nonradioactive registration of mutant all eles of AR gene. DNA-diagnosis was performed in 16 patients with clini cal pattern of bulbospinal muscular atrophy and diagnosis was confirme d in 11 patients. Carriage of mutant alleles was found in 7 women - re latives of the patients. Presymptomatic diagnosis revealed the presenc e of mutant alleles in 2 boys. Unstability of alleles of mutant AR gen e was observed in one family: in sons there was more (upon 5) of CAG-t riplets.