Human Genetics

, Volume 107, Issue 1, pp 45–50

MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions

Authors

  • Lucia Cavelier
    • Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, University of Uppsala, S-751 85 Uppsala, Sweden
  • Elena Jazin
    • Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, University of Uppsala, S-751 85 Uppsala, Sweden
  • Paula Jalonen
    • Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, University of Uppsala, S-751 85 Uppsala, Sweden
  • Ulf Gyllensten
    • Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, University of Uppsala, S-751 85 Uppsala, Sweden
Original Investigation

DOI: 10.1007/s004390000305

Cite this article as:
Cavelier, L., Jazin, E., Jalonen, P. et al. Hum Genet (2000) 107: 45. doi:10.1007/s004390000305

Abstract.

The mitochondrial DNA (mtDNA) substitution rate and segregation of heteroplasmy were studied for the non-coding control region (D-loop) and 500 bp of the coding region between nucleotide positions 5550 and 6050, by sequence analysis of blood samples from 194 individuals, representing 33 maternal lineages. No homoplasmic nucleotide substitutions were detected in a total of 292 transmissions. The estimated substitution rate per nucleotide per million years for the control region (µ>0.21, 95% CI 0–0.6) was not significantly different from that for the coding region (µ>0.54, 95% CI 0–1.0). Variation in the length of homopolymeric C streches was observed at three sites in the control region (positions 65, 309 and 16,189), all of which were in the heteroplasmic state. Segregation of heteroplasmic genotypes between generations was observed in several maternal pedigrees. At position 309, a longer poly C tract length was strongly associated with a higher probability for heteroplasmy and rapid segregation between generations. The length heteroplasmy at positions 65 and 16,189 was found at low frequency and was confined to a few families.

Copyright information

© Springer-Verlag 2000