Article

Different methods to determine length heteroplasmy within the mitochondrial control region.

Institute of Legal Medicine, Albert Ludwig University Freiburg, Albertstrasse 9, 79104 Freiburg, Germany.
Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin (impact factor: 2.59). 11/2004; 118(5):274-81. DOI:10.1007/s00414-004-0457-0 pp.274-81
Source: PubMed

ABSTRACT The first and second hypervariable regions of the human mitochondrial DNA control region contain two homopolymeric stretches of cytosine (nt 16184-16193 and nt303-315, respectively). According to the Cambridge reference sequence these homopolymeric stretches are interrupted by thymine (T), at positions 16189 and 310, respectively. Monotonous runs of the same base have been suggested to be hot spots for mutations, probably caused by replication slippage, resulting in length heteroplasmy. This paper describes a rapid method based on restriction cleavage of labelled PCR products encompassing the homopolymeric tract in HVII to quantify the relative proportions of different length variants present in an individual. To compare the accuracy of this method, cloned PCR products from several heteroplasmic individuals have been additionally sequenced.

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Keywords

different length variants present
 
heteroplasmic individuals
 
hot spots
 
human mitochondrial DNA control region
 
labelled PCR products encompassing
 
Monotonous runs
 
relative proportions
 
replication slippage
 
second hypervariable regions