[Molecular genetic testing in the diagnosis of sporadic cases of Huntington's chorea].
Huntington's disease is characterized by autosomal dominant transmission and a complete penetrance of the mutant gene. Mutation in Huntington's disease consists in expansion of the unstable tandem CAG-trinucleotide repeats. This discovery allowed to perform a precise DNA diagnosis of the mutant gene carriers. Direct DNA diagnosis has a special importance in sporadic cases of the disease. We performed direct DNA diagnosis in 4 patients with sporadic choreic hyperkinesis, and elaborated a modified protocol for DNA amplification. The obtained results are discussed from the viewpoint of current knowledge about the nature of the Huntington's disease gene.
Ivanova-Smolenskaia
I A
IA
Ovchinnikov
I V
IV
Illarioshkin
S N
SN
Markova
E D
ED
Kliushnikov
S A
SA
Nikol'skaia
N N
NN
Miklina
N I
NI
D000368:Aged; D000483:Alleles; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques
D004247:DNA
Molekuliarno-geneticheskoe testirovanie v diagnostike sporadicheskikh sluchaev khorei Gentingtona.