[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].
Bulbospinal muscular atrophy--a rare disease with X-linked recessive type of inheritance. It is caused by expansion of trinucleotide repetitions in the gene of androgenic receptor (AR). We elaborated a method of DNA-testing with usage of nonradioactive registration of mutant alleles of AR gene. DNA-diagnosis was performed in 16 patients with clinical pattern of bulbospinal muscular atrophy and diagnosis was confirmed in 11 patients. Carriage of mutant alleles was found in 7 women--relatives of the patients. Presymptomatic diagnosis revealed the presence of mutant alleles in 2 boys. Unstability of alleles of mutant AR gene was observed in one family: in sons there was more (upon 5) of CAG-triplets.
Malygina
N A
NA
Kazakov
A E
AE
Dubchak
L V
LV
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D003402:Creatine Kinase / Q000378:metabolism; D004247:DNA / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000096:biosynthesis / Q000235:genetics*
D005819:Genetic Markers; D011944:Receptors, Androgen; D004247:DNA; D003402:Creatine Kinase
DNK-diagnostika bul'bospinal'noĭ myshechnoĭ atrofii (bolezn' Kennedi).