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Mitochondrial DNA Sequence Analysis in the Lithuanian Population

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发表于 2010-1-17 18:16 | 显示全部楼层 |阅读模式
Mitochondrial DNA Sequence Analysis in the Lithuanian Population

Analysis of mitochondrial DNA (mtDNA) diversity has proved to be a useful tool in our understanding of the origin and history of human populations and also provided insights into the pathophysiology of mitochondrial disease. In order to investigate the genetic composition of the Lithuanian population, we have analysed mtDNA variation in 180 individuals from six Lithuanian ethnolinguistic subgroups. The sequencing of the first hypervariable segment (HV1) in the control region of the mtDNA and restriction fragment length polymorphism typing allowed us to classify mtDNA molecules to previously described haplogroups. This analysis revealed the presence of all major European mtDNA haplogroups (H, V, U, K, J, T, I, W, X) in the Lithuanian sample. Haplogroup H was the most common in Lithuanians, comprising 46% of all sequences. The frequencies of the rest haplogroups ranged from 1% to 20%. No significant differences, which could indicate influence of different Baltic tribes, were detected among ethnolinguistic subgroups of Lithuanians. The analysis of molecular variance (AMOVA) further confirmed the absence of internal genetic structuring in the Lithuanian population. Comparisons with other European populations demonstrated that the Lithuanian mtDNA gene pool is more closely related to the mtDNA gene pool of Northern European populations, while molecular diversity indices (gene diversity 0.971 ± 0.008, nucleotide diversity 0.012 ± 0.007 and the mean number of pairwise differences between sequences 4.41 ± 2.19) indicate that the Lithuanians are among the more diverse populations in Europe.


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