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Investigation of mtDNA heteroplasmy discordance between mother and child

Authors
Journal
International Congress Series
0531-5131
Publisher
Elsevier
Publication Date
Volume
1261
Identifiers
DOI: 10.1016/s0531-5131(03)01784-9
Keywords
  • Mtdna
  • Heteroplasmy
  • Mother–Offspring Pair
  • Hair Shaft
  • Blood

Abstract

Abstract Maternal mitochondrial DNA (mtDNA) heteroplasmy discordances were investigated by means of mtDNA hypervariable region 1 sequencing using hair shaft and blood samples obtained from eight mother–offspring pairs. Despite mtDNA's inheritance through the maternal line, heteroplasmic discrepancies appear to exist. Results also suggest that heteroplasmic mutations may be more common in hair than in blood.

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