[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].

Abstract

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.

• Authors: N A Malygina, A E Kazakov, L V Dubchak
• Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (Zh Nevrol Psikhiatr Im S S Korsakova) Vol. 97 Issue 12 Pg. 35-8 ( 1997) ISSN: 1997-7298 [Print] Russia (Federation)
• Vernacular Title: DNK-diagnostika bul'bospinal'noĭ myshechnoĭ atrofii (bolezn' Kennedi).
• PMID: 9591063 (Publication Type: Comparative Study, English Abstract, Journal Article)

Chemical References

• Genetic Markers
• Receptors, Androgen
• DNA
• Creatine Kinase

Topics

• Adolescent
• Adult
• Aged
• Alleles
• Creatine Kinase (metabolism)
• DNA (analysis)
• Electrophoresis, Polyacrylamide Gel
• Female
• Gene Expression
• Genetic Linkage (genetics)
• Genetic Markers
• Humans
• Male
• Middle Aged
• Muscular Atrophy, Spinal (diagnosis, genetics, metabolism)
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Receptors, Androgen (biosynthesis, genetics)