Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany |
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Authors: | S Lutz H-J Weisser J Heizmann S Pollak |
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Institution: | Institut für Rechtsmedizin, Klinikum der Universit?t Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany Fax: +49 (761) 203 6858 e-mail: lutz@sun11.ukl.uni-freiburg.de, DE
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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%.
Received: 21 May 1997 / Received in revised form: 9 September 1997 |
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Keywords: | DNA typing Mitochondrial DNA Non-coding region D-loop region Hypervariable regions PCR Sequencing Population study |
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