Sequence polymorphisms within the human mitochondrial genes MTATP6, MTATP8 and MTND4

Abstract

By sequencing the control region of mitochondrial DNA, the majority of human DNA samples can be differentiated. A further increase in differentiation probability may be possible, e.g. by extending the sequenced region to coding regions of the mitochondrial genome. Restriction to those positions that do not result in a change of the amino acids guarantees that the information thus obtained does not refer to phenotypically relevant information. In the present study the sequence data of the mitochondrial genes MTATP6, MTATP8 and MTND4 were collected from 109 subjects and analyzed in order to define variable positions suitable for identification purposes. There were 32 variable base positions among 850 bases studied from MTATPase genes and 1,200 bases of the MTND4 gene showed 28 variable positions. "Hot spots" for base exchanges were found in both regions and one position (position 11,719 in the MTND4 gene) seems to be suitable for SNP investigation for forensic purposes.