Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17.
- Author:
Gu Hwan KIM
1
;
Sun Ju CHUNG
;
Ho Sung RYU
;
Jaemin KIM
;
Jin Joo LEE
;
Seoung Hoon CHOI
;
Juyeon LEE
;
Beom Hee LEE
;
Jin Ho CHOI
;
Han Wook YOO
Author Information
- Publication Type:Original Article
- Keywords: Spinocerebellar ataxia; Spinocerebellar ataxia 8; Koreans
- MeSH: Asian Continental Ancestry Group; Cohort Studies; Electrophoresis, Capillary; Fluorescence; Humans; Korea; Neurodegenerative Diseases; Polymerase Chain Reaction; Prevalence; Repetitive Sequences, Nucleic Acid*; Spinocerebellar Ataxias*; Trinucleotide Repeats; Wills
- From:Journal of Genetic Medicine 2015;12(1):38-43
- CountryRepublic of Korea
- Language:English
- Abstract: PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. MATERIALS AND METHODS: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A , and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. RESULTS: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, 24+/-4 copies) for SCA8, 7-18 copies (average, 13+/-3 copies) for SCA12, and 26-43 copies (average, 35+/-2 copies) for SCA17. CONCLUSION: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.
