title: [The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy].
abstract: Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patients. Five heterozygous female carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heterozygous carrier of pathological gene and to perform potential prenatal diagnosis.
authors.forename: A S
authors.initials: AS
authors.lastname: Petrukhin
authors.forename: N N
authors.initials: NN
authors.lastname: Zavadenko
authors.forename: A A
authors.initials: AA
authors.lastname: Petrukhin
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
mesh_terms: D000293:Adolescent; D000368:Aged; D004247:DNA / Q000097:blood* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009460:Neurologic Examination; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D004247:DNA
vernacular_title: DNK-diagnostika semeĭnogo sluchaia spinal'noĭ i bul'barnoĭ amiotrofii Kennedi.