Astrinidis A, Kouvatsi A
Department of Genetics, Development, and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Greece.
Hum Biol. 1994 Aug;66(4):601-11.
The polymorphism of human mitochondrial DNA (mtDNA) was studied in 118 unrelated Greeks (from northern Greece) using total blood cell DNA and the restriction enzymes HpaI, BamHI, HaeII, MspI, AvaII, and HincII. One new morph was identified for MspI (named MspI morph 18Gr) and is the result of a mutation in a previously thought monomorphic site at 104 bp. HpaI morph 1 was detected for the first time in a European sample. Also, AvaII morph 13 was observed in Greece in a frequency higher (5.93%) than that found in any other population. Eighteen mtDNA types were identified, three of which are new [86-2 (1-3-1-4-9-2), 87-2 (2-3-1-1-13-2), and 88-2 (2-1-1-18Gr-1-2)] and can be derived from already known mtDNA types by single restriction site changes. Type 57-2 (2-3-1-4-13-2), which had been previously characterized as "Italian," was found with higher frequency (4.24%) in northern Greece. The calculation of genetic distances and chi-square values through Monte Carlo simulation shows that the Greek sample does not differ from the Italian sample.
利用全血细胞DNA以及限制性内切酶HpaI、BamHI、HaeII、MspI、AvaII和HincII，对118名来自希腊北部的无血缘关系的希腊人进行了人类线粒体DNA（mtDNA）多态性研究。鉴定出一种新的MspI酶切形态（命名为MspI形态18Gr），它是由先前认为的位于104 bp处的单态位点发生突变导致的。首次在欧洲样本中检测到HpaI形态1。此外，在希腊观察到AvaII形态13的频率较高（5.93%），高于在其他任何人群中发现的频率。鉴定出18种mtDNA类型，其中三种是新的[86 - 2(1 - 3 - 1 - 4 - 9 - 2)、87 - 2(2 - 3 - 1 - 1 - 13 - 2)和88 - 2(2 - 1 - 1 - 18Gr - 1 - 2)]，它们可通过单一切点变化从已知的mtDNA类型衍生而来。先前被鉴定为“意大利型”的57 - 2(2 - 3 - 1 - 4 - 13 - 2)类型，在希腊北部的出现频率较高（4.24%）。通过蒙特卡罗模拟计算遗传距离和卡方值表明，希腊样本与意大利样本没有差异。
