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.
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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)
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Chemical References |
- Genetic Markers
- Receptors, Androgen
- DNA
- Creatine Kinase
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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)
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