caa a22 4500 475787757 CHVBK 20180406123703.0 cr unu---uuuuu 170329e20000501xx s 000 0 eng 10.1007/s004140050288 doi (NATIONALLICENCE)springer-10.1007/s004140050288 Mitochondrial heteroplasmy among maternally related individuals [Elektronische Daten] [S. Lutz, Hans-Joachim Weisser, Jeannette Heizmann, Stefan Pollak] The second hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytidines between nucleotides (nt) 303 and 315, interrupted by a thymidine at position 310, according to the Cambridge reference sequence. By direct sequencing, some individuals show blurred sequence chromatograms in this region which are not caused by a sequencing artefact but by high levels of length heteroplasmy. With respect to this length heteroplasmy ten maternally related individuals and two unrelated probands were examined. The relative proportions of length variants in the homopolymeric tract in selected individuals were determined by cloning and sequencing of multiple independent clones. All ten family members examined were heteroplasmic while the proportions of each genotype varied widely in different individuals. The size of a possible mitochondrial bottleneck during embryonic development of the offspring is discussed with respect to the changes in mitochondrial haplotypes within mother-offspring pairs. Our data are consistent with both slow and rapid segregation of mtDNAs between the generations, which would implicate a tight as well as a wide bottleneck. Therefore, a common bottleneck size in all individuals from this lineage seems to be very unlikely. Springer-Verlag Berlin Heidelberg, 2000 Key words Mitochondrial DNA nationallicence Heteroplasmy nationallicence Bottleneck nationallicence Non-coding region nationallicence D-loop region nationallicence Sequencing nationallicence Lutz S. Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut Weisser Hans-Joachim Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut Heizmann Jeannette Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut Pollak Stefan Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut https://doi.org/10.1007/s004140050288 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004140050288 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lutz S. Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut NATIONALLICENCE 700 1- Weisser Hans-Joachim Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut NATIONALLICENCE 700 1- Heizmann Jeannette Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut NATIONALLICENCE 700 1- Pollak Stefan Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104 Freiburg, Germany, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer