CAGDistribution of five common subtypes of spinocerebellar ataxia in the Korean population

• 발행기관: 대한의학유전학회
• 저자명: In Hee Choi Gu Hwan Kim Beom Hee Lee Jin Ho Choi Han Wook Yoo
• 간행물 정보: 『대한의학유전학회지』제11권 제2호, 69~73쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2014.12.30

영문 초록

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was 45±8.5 for SCA1, 42±3.1 for SCA2, 72±5.4 for SCA3, 23±1.5 for SCA6, and 50±11.4 for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

목차

Abstract

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Materials and Methods

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키워드

Spinocerebellar ataxias Trinucleotide repeats