Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke

Saara Finnilä , Ilmo E Hassinen , Kari Majamaa
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引用次数: 44

Abstract

Mitochondrial DNA (mtDNA) haplogroup U, defined by the polymorphism 12308A>G, may constitute a risk factor for an occipital stroke in migraine. We therefore identified 14 patients with an occipital stroke and with 12308A>G. We determined complete mtDNA coding region sequence for the patients and for population controls by conformation sensitive gel electrophoresis (CSGE) and direct sequencing. Sequence information was used to construct a phylogenetic network of mtDNA haplogroups U and K, which was found to be composed of subclusters U2, U4, U5 and a new subcluster U7, as well as cluster K. Five patients with a migrainous stroke belonged to subcluster U5 (P=0.006; Fisher’s exact test). Many unique mutations were found among the patients with an occipital stroke including two tRNA mutations that have previously been suggested to be pathogenic. Analysis of mtDNA sequences by CSGE and comparison of the sequences through phylogenetic analysis greatly enhances the identification of mtDNA clusters in population and detection of mtDNA mutations in patients.

枕叶脑卒中患者线粒体DNA的系统发育分析
由12308A>;G、 可能构成偏头痛枕叶卒中的危险因素。因此,我们确定了14名枕叶卒中患者,12308A>;G.我们通过构象敏感凝胶电泳(CSGE)和直接测序确定了患者和人群对照的完整mtDNA编码区序列。利用序列信息构建了mtDNA单倍群U和K的系统发育网络,发现其由亚簇U2、U4、U5和一个新的亚簇U7以及簇K组成。5名偏头痛性中风患者属于亚簇U5(P=0.006;Fisher精确检验)。在枕叶卒中患者中发现了许多独特的突变,包括两个tRNA突变,这些突变以前被认为是致病性的。通过CSGE对mtDNA序列的分析和通过系统发育分析对序列的比较大大增强了群体中mtDNA簇的识别和患者mtDNA突变的检测。
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