Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany

Abstract

In order to identify polymorphic positions and to determine their frequency in the human mitochondrial D-loop containing region, the mitochondrial DNA (mtDNA) control region of 200 unrelated individuals from Germany were amplified and directly sequenced. Sequence comparison led to the identification of 190 mitochondrial lineages as defined by 202 variable positions. The most frequently occurring lineage comprised 5 individuals, whereas 186 types of D-loop sequences were observed in only one individual. Of the sequences studied 7% are not unique but show at least one counterpart with an identical haplotype. The majority (61%) of the control regions investigated showed between four and eight nucleotide positions deviating from the reference sequence. The maximum number of deviations observed in a single control region was 18. The majority of the variable positions in the D-loop region (88%) are located within three hypervariable regions. Sequence variations are caused by nucleotide substitutions, insertions or deletions. As compared to insertions and deletions, nucleotide substitutions make up the vast majority of the mutations (90%). We have predominantly found transitions (75%) and a significantly lower frequency of transversions (15%) whereas insertions (6%) as well as deletions (4%) are rather rare. Upon sequencing the mitochondrial control region from 200 German Caucasians the genetic diversity was estimated at 0.99. The probability of two randomly selected individuals from a population having identical mtDNA types is 0.6%.

High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples

“…Also, 95% of all inherited human D-loop polymorphisms are transitions. 23 A re-analysis of the literature dealing with mtDNA mutations in various carcinomas 10 -14 revealed that in these tumors also all base substitutions were transitions, that the vast majority were homoplasmic and that the remainder occurred with high levels of heteroplasmy.…”

Genetic markers and population history: Finland revisited

“…23 A subset of the available mtDNA data was chosen to represent different parts of Europe. Data (361 bp HVS-I data; sites 16 024 -16 385) were obtained for the following populations: Sweden (N ¼ 296, kindly provided by A. Karlsson), Norway (N ¼ 74), 24 Estonia (N ¼ 48), 25 France (N ¼ 50), 26 Russia (N ¼ 174), 27,28 Germany (N ¼ 200), 29 Italy (N ¼ 49), 30 Austria (N ¼ 101) 31 and England (N ¼ 100). 32 …”

The evidence of mtDNA haplogroup F in a European population and its ethnohistoric implications

“…The presence of haplogroup F was also checked from the following dataset: 5608 Europeans, 19 7,9,10,12,21 In this work haplogroup is defined as a monophyletic clade in the mtDNA tree, comprising a group of haplotypes descending from the most recent common ancestor, as inferred from the shared mutations. 27 We use informal terms for the hierarchy of the branching order of the phylogenetic tree as follows: limb4bough4twig.…”