[研究显性遗传性脊髓小脑共济失调的分子遗传学方法]

[The molecular genetic approach to the study of dominant spinocerebellar ataxias].

作者信息

Illarioshkin S N, Ovchinnikov I V, Ivanova-Smolenskaia I A, Vereshchagin N V, Markova E D, Miklina N I, Kliushnikov S A

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 1996;96(1):37-41.

Abstract

At least 5 different genes of autosomal dominant spinocerebellar ataxias (SCA) were revealed recently. Their discovery permitted to elaborate the most perfect classification of this heterogeneous group of diseases. In two forms of ataxias (SCA1 and SCA3) the mutations consist in the expansion of CAG-trinucleotides repetitions. The Russian population of patients with dominant SCA (13 families) was examined for the first time in terms of the evaluation of mutant gene carriers of SCA1 and SCA3. SCA1 was diagnosed in 5 families on the molecular level. The cerebellar ataxia, dysarthria as well as pyramidal symptoms comprised the basis of SCA1 clinical pattern. There were no SCA3 cases at DNA-testing. The perspectives of DNA-diagnosis of inherited ataxias were considered.

摘要

最近发现了至少5种常染色体显性遗传性脊髓小脑共济失调（SCA）的不同基因。它们的发现使得能够对这一异质性疾病组进行最完善的分类。在两种共济失调形式（SCA1和SCA3）中，突变在于CAG三核苷酸重复序列的扩增。首次对俄罗斯显性SCA患者群体（13个家庭）进行了SCA1和SCA3突变基因携带者的评估。在分子水平上，5个家庭被诊断为SCA1。小脑共济失调、构音障碍以及锥体束征构成了SCA1临床症状的基础。DNA检测中未发现SCA3病例。文中还探讨了遗传性共济失调的DNA诊断前景。