التفاصيل البيبلوغرافية
| العنوان: |
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. |
| المؤلفون: |
Mongelli, Alessia, Magri, Stefania, Salvatore, Elena, Rizzo, Elena, De Rosa, Anna, Fico, Tommasina, Gatti, Marta, Gellera, Cinzia, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo |
| المصدر: |
Neurological Sciences; Jun2020, Vol. 41 Issue 6, p1475-1482, 8p, 2 Charts, 4 Graphs |
| مصطلحات موضوعية: |
SPINOCEREBELLAR ataxia, DISTRIBUTION (Probability theory), ALLELES, HUNTINGTON disease, DISEASE prevalence, DISEASES |
| مستخلص: |
Background: Huntington disease (HD) and spinocerebellar ataxia type 1-2-17 (SCA1-2-17) are adult-onset autosomal dominant diseases, caused by triplet repeat expansions in the HTT, ATXN1, ATXN2, and TBP genes. Alleles with a repeat number just below the pathological threshold are associated with reduced penetrance and meiotic instability and are defined as intermediate alleles (IAs).Objectives: We aimed to determine the frequencies of IAs in healthy Italian subjects and to compare the proportion of the IAs with the prevalence of the respective diseases.Methods: We analyzed the triplet repeat size in HTT, ATXN1, ATXN2, and TBP genes in the DNA samples from 729 consecutive adult healthy Italian subjects.Results: IAs associated with reduced penetrance were found in ATXN2 gene (1 subject, 0.1%) and TBP gene (0.82%). IAs at risk for meiotic instability were found in HTT (5.3%) and ATXN2 genes (2.7%). In ATXN1, we found a low percentage of IAs (0.4%). Alleles lacking the common CAT interruption within the CAG sequence were also rare (0.3%).Conclusions: The high frequencies of IAs in HTT and ATXN2 genes suggest a correlation with the prevalence of the diseases in our population and support the hypothesis that IAs could represent a reservoir of new pathological expansions. On the opposite, ATXN1-IA were very rare in respect to the prevalence of SCA1 in our country, and TBP- IA were more frequent than expected, suggesting that other mechanisms could influence the occurrence of novel pathological expansions. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
