mtDNA HVI length heteroplasmic profile in different tissues of maternally related members.
Sequencing of the homopolymeric tract of cytosines (C-stretch) in human mitochondrial HVI region usually results in a blurred pattern beyond it when a T/C transition at nt 16189 occurs: it depends on a length heteroplasmy probably arising through a replication slippage. This study aims to investigate the distribution of heteroplasmic length variants within three related individuals along maternal lineage by cloning approach. Sequencing of multiple independent clones (12--14) is sufficient to yield heteroplasmic profiles. In addition, we illustrate a direct correlation between expansion of heteroplasmy modal length and reduction of the number of adenines preceding the homopolymeric tract; this association may be useful in pedigree analysis and in forensic field for tissues comparison, single hair sample included.
Bini
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C
Department of Medicine and Public Health, Section of Legal Medicine, University of Bologna, via Irnerio 49, 40126 Bologna, Italy.
Pappalardo
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D022801:Complementarity Determining Regions / Q000235:genetics*; D003596:Cytosine / Q000378:metabolism*; D016172:DNA Fingerprinting / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D014644:Genetic Variation; D006197:Hair / Q000378:metabolism; D006801:Humans; D008297:Male; D010375:Pedigree; D012463:Saliva / Q000378:metabolism; D017422:Sequence Analysis, DNA / Q000379:methods*
D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial; D003596:Cytosine