Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions?
The mitochondrial control region includes three so-called hypervariable (HV) regions, in which the polymorphic positions show a particularly high frequency. According to a population study of 200 unrelated individuals from Germany, HVI (positions 16,024-16,365, according to Anderson) showed 88 variable positions in a total length of 342 bp (26%) and HVII (positions 73-340) displayed 65 mutable sites in 268 bp (24%). HVIII (positions 438-574) exhibited a slightly lower variability, with 25 polymorphic sites within 137 bp (18%), but contrasted clearly with the background, which showed variability rates of only 7% (positions 16,366-16,569, 1-72) and 3% (positions 341-437), respectively. At present, the displacement (D)-loop database in Magdeburg comprises 904 sequences of the mitochondrial HVI region and HVII region from Germans, Austrians and Swiss. By means of this material, the extent to which the mtDNA sequences that do not differ in the HVI and HVII regions can be differentiated by additionally sequencing HVIII was investigated.
Lutz
S
S
Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, D-79104, Freiburg, Germany. lutz@sun11.ukl.uni-freiburg.de
Wittig
H
H
Weisser
H J
HJ
Heizmann
J
J
Junge
A
A
Dimo-Simonin
N
N
Parson
W
W
Edelmann
J
J
Anslinger
K
K
Jung
S
S
Augustin
C
C
D001317:Austria; D022801:Complementarity Determining Regions / Q000235:genetics*; D016172:DNA Fingerprinting / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics*; D016208:Databases, Factual; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005858:Germany; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D012494:Sampling Studies; D017422:Sequence Analysis, DNA / Q000379:methods*; D013557:Switzerland
D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial