Vilkki J, Savontaus M L, Nikoskelainen E K
Department of Biology, University of Turku, Finland.
Hum Genet. 1988 Dec;80(4):317-21. doi: 10.1007/BF00273643.
Variation in mitochondrial DNA (mtDNA) in a sample of 110 Finns was analyzed with six restriction enzymes, AvaII, BamHI, HaeII, HindII, HpaI, and MspI, by using total blood cell DNA probed with mouse mtDNA. Two new enzyme morphs were observed, one for HaeII and one for HindII. Double-digestion experiments indicated that the BamHI morphs 2 and 3 result from base changes leading to AvaII morphs 3 and 9, respectively. Of the ten different mtDNA types observed, defined by restriction fragment patterns, seven have been previously described in Caucasoid populations. The three new "Finnish" mtDNA types can be derived from Caucasoid lineages by single restriction site changes. The results were used to reconstruct a phylogenetic tree for Caucasoid mtDNA types defined by the enzymes used. The frequencies of mtDNA types were used to compute genetic distances between Finns, Italians, and Israeli Jews. The frequencies of both enzyme morphs and mtDNA types show that the Finnish population is highly homogeneous.
采用小鼠线粒体DNA(mtDNA)探针检测全血细胞DNA,运用六种限制性内切酶(AvaII、BamHI、HaeII、HindII、HpaI和MspI)对110名芬兰人的样本中的线粒体DNA变异情况进行了分析。观察到两种新的酶切形态,一种是HaeII的,一种是HindII的。双酶切实验表明,BamHI的形态2和形态3分别是由碱基变化导致AvaII的形态3和形态9产生的。在所观察到的由限制性片段模式定义的十种不同的mtDNA类型中,七种先前已在高加索人群中被描述过。这三种新的“芬兰”mtDNA类型可通过单一位点的限制性内切酶变化从高加索谱系衍生而来。研究结果被用于构建由所用酶定义的高加索mtDNA类型的系统发育树。mtDNA类型的频率被用于计算芬兰人、意大利人和以色列犹太人之间的遗传距离。酶切形态和mtDNA类型的频率均表明芬兰人群具有高度同质性。