Na. Malygina et al., DNA-DIAGNOSIS OF BULBOSPINAL MUSCULAR-ATR OPHY (KENNEDYS-DISEASE), Zurnal nevropatologii i psihiatrii im. S.S. Korsakova, 97(12), 1997, pp. 35-38
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.