分析多发性硬化症中的 CYP27B1。
Analysis of CYP27B1 in multiple sclerosis.
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
出版信息
J Neuroimmunol. 2014 Jan 15;266(1-2):64-6. doi: 10.1016/j.jneuroim.2013.11.006. Epub 2013 Nov 23.
Abstract
The analysis of genetic variability in CYP27B1 and its effect on risk of multiple sclerosis (MS) has yielded conflicting results. Here we describe a study to genetically characterize CYP27B1 and elucidate its role on MS risk in the Canadian population. Sequencing CYP27B1 failed to identify mutations known to cause loss of enzymatic activity, however genotyping of p.R389H in cases and controls identified the mutation in one multi-incident family (allele frequency=0.03%) in which the p.R389H mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.
摘要
对 CYP27B1 的遗传变异性及其对多发性硬化症 (MS) 风险的影响进行分析，结果存在矛盾。在此，我们描述了一项在加拿大人群中对 CYP27B1 进行基因特征分析并阐明其对 MS 风险作用的研究。对 CYP27B1 进行测序未能发现已知导致酶活性丧失的突变，但对病例和对照中的 p.R389H 进行基因分型，在一个多发病例家族中鉴定出该突变（等位基因频率为 0.03%），该家族中 5 位 MS 确诊成员中存在 p.R389H 突变与疾病共分离，因此为 CYP27B1 p.R389H 在 MS 发病机制中的作用提供了额外支持。
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2
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3
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4
Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.
Hum Mol Genet. 2013 Jun 1;22(11):2283-92. doi: 10.1093/hmg/ddt062. Epub 2013 Feb 12.
5
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6
Translation initiator EIF4G1 mutations in familial Parkinson disease.
Am J Hum Genet. 2011 Sep 9;89(3):398-406. doi: 10.1016/j.ajhg.2011.08.009.
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A method and server for predicting damaging missense mutations.
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
8
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Nat Protoc. 2009;4(7):1073-81. doi: 10.1038/nprot.2009.86. Epub 2009 Jun 25.
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