지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 458 - 462 (5page)
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초록· 키워드
오류제보하기
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood spots (DBSs) from seven Korean individuals who underwent an analysis of ARSA activity. DNA was extracted from DBSs, and PCR-direct sequencing of ARSA was performed. The cDNA obtained was analyzed to confirm a novel mutation. Of the seven subjects, three were confirmed as having MLD, one was confirmed as having MLD-PD, one was confirmed as having PD, and the remaining two were obligate heterozygotes. We verified the novel pathogenic variant c.1107+1delG by performing familial and cDNA analyses. Sulfatide concentrations in DBSs were analyzed and were quantified by using ultra-performance liquid chromatography and tandem mass spectrometry, respectively. Total sulfatide concentration was inversely correlated with ARSA activity (Spearman’s coefficient of rank correlation, P=0.929, P=0.0025). The results of this mutational and biochemical study on MLD will increase our understanding of the genetic characteristics of MLD in Koreans.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Baum H / 1959 / The assay of arylsulphatases A and B in human urine / Clin Chim Acta 4 : 453 ~ 455
Berger J / 1997 / Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy / Am J Med Genet 69 : 335 ~ 340
Eto Y / 1993 / Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease / Mol Cell Biochem 119 : 179
Fluharty AL / / GeneReviews-Arylsulfatase A Deficiency
Fluharty AL / 1991 / Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient / Am J Hum Genet 49 : 1340 ~ 1350
Berger J / 1997 / Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy / Am J Med Genet 69 : 335 ~ 340
Eto Y / 1993 / Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease / Mol Cell Biochem 119 : 179
Fluharty AL / / GeneReviews-Arylsulfatase A Deficiency
Fluharty AL / 1991 / Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient / Am J Hum Genet 49 : 1340 ~ 1350
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