在三名具有不同表型严重程度的非亲缘关系伊朗黏多糖贮积症VI型患者中鉴定出一种新型芳基硫酸酯酶B基因突变。
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
作者信息
Nouri Nayerossadat, Nouri Nargesossadat, Aryani Omid, Kamalidehghan Behnam, Houshmand Massoud
机构信息
Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
General Tohid Genetic Counseling Center, Isfahan, Iran.
出版信息
Iran Biomed J. 2012;16(3):169-71. doi: 10.6091/ibj.1049.2012.
BACKGROUND
Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran.
METHODS
After PCR and direct DNA sequencing, DNA extraction was performed.
RESULTS
Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A<G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity.
CONCLUSION
The mutation type in three patients was the same; probably, because of a foundation effect on their population.
背景
黏多糖贮积症 VI 型（MPS-VI）以常染色体隐性特征遗传，是由 N-乙酰半乳糖胺 4-硫酸酯酶（芳基硫酸酯酶 B）活性缺乏以及硫酸皮肤素在溶酶体中蓄积所致。在本研究中，对三名原本来自伊朗西阿塞拜疆省的非亲属患者进行了 ARSB 突变分析。
方法
进行聚合酶链反应（PCR）和直接 DNA 测序后，进行 DNA 提取。
结果
测序分析显示，在三名具有不同表型严重程度的非亲属伊朗 MPS-VI 患者中，ARSB 基因存在一个新的纯合错义突变，位于 c.1457A<G [p.D486V]。
结论
三名患者的突变类型相同；可能是由于其群体中的奠基者效应。
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