[The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy].
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.
Petrukhin
A S
AS
Zavadenko
N N
NN
Petrukhin
A A
AA
Evgrafov
O V
OV
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
D004247:DNA
DNK-diagnostika semeĭnogo sluchaia spinal'noĭ i bul'barnoĭ amiotrofii Kennedi.