Ivanova-Smolenskaia I A, Ovchinnikov I V, Illarioshkin S N, Markova E D, Kliushnikov S A, Nikol'skaia N N, Miklina N I
Zh Nevrol Psikhiatr Im S S Korsakova. 1998;98(3):19-22.
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.
亨廷顿舞蹈症以常染色体显性遗传和突变基因的完全外显为特征。亨廷顿舞蹈症的突变在于不稳定的串联CAG三核苷酸重复序列的扩增。这一发现使得对突变基因携带者进行精确的DNA诊断成为可能。直接DNA诊断在该疾病的散发病例中具有特殊重要性。我们对4例散发性舞蹈性运动障碍患者进行了直接DNA诊断，并完善了DNA扩增的改良方案。从目前关于亨廷顿舞蹈症基因本质的知识角度对所得结果进行了讨论。
