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Title: | Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? | Authors: | Savić, Dušanka Topisirović, Ivan Keckarević, Milica Keckarević, Dušan Major, Tamara Čuljković, Biljana Stojković, Oliver Rakočević-Stojanović, Vidosava Mladenović, Jelena Todorović, Slobodanka Apostolski, Slobodan Romac, Stanka |
Keywords: | Neurodegenerative disorders;Neuromuscular disorders;SCA1;Trinucleotide repeats | Issue Date: | 1-Dec-2001 | Journal: | Psychiatric Genetics | Abstract: | A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. The molecular mechanisms that underlie these expansions are not yet known. We have analyzed six trinucleotide repeat-containing loci [spinocerebellar ataxias (SCA1, SCA3, SCA8), dentatorubralpallidoluysian atrophy (DRPLA), Huntington chorea (HD) and fragile X syndrome (FRAXA)] in myotonic dystrophy type 1 (DM1) patients (n = 52). As controls, we analyzed two groups of subjects: healthy control subjects (n = 133), and a group of patients with non-triplet neuromuscular diseases (n = 68) caused by point mutations, deletions or duplications (spinal muscular atrophy, Charcot-Marie-Tooth disease, type 1A, hereditary neuropathy with liability to pressure palsies, and Duchenne and Becker muscular dystrophy). Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions. © 2001 Lippincott Williams & Wilkins. |
URI: | https://biore.bio.bg.ac.rs/handle/123456789/2839 | ISSN: | 0955-8829 | DOI: | 10.1097/00041444-200112000-00004 |
Appears in Collections: | Journal Article |
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