Inter- and Intergenerational Transmission of a Human Mitochondrial DNA Heteroplasmy Among 13 Maternally-Related Individuals and Differences Between and Within Tissues in Two Family Members

Published

June 1, 2003

Author(s)

Koji Sekiguchi, K Kasai, Barbara C. Levin

Abstract

The transmission of a C16,291C/T heteroplasmy in the HV1 region of human mitochondrial DNA (mtDNA) was examined in buccal cells from 13 maternally-related individuals across three generations and in additional tissues (hair, blood or finger nails) from three members of this family. The ratio of C:T showed wide intra- and intergenerational variation as well as tissue variation within individuals. The results demonstrate that one or two sequence differences between samples in the mtDNA does not warrant an exclusion. To avoid false exclusions especially when comparing mtDNA from hair samples, we recommended the analysis of as many samples as possible in order to minimize the possibility that the detection of a rare polymorphism in a single sample would be considered an exclusion when it is really a match. The observation that the transmission of a mtDNA heteroplasmy.

Citation

Mitochondrion

Volume

2

Issue

No. 6

Pub Type

Journals

Keywords

heteroplasmy, human, inheritance, mitochondrial DNA, multigenerational, tissue difference

Citation

Sekiguchi, K. , Kasai, K. and Levin, B. (2003), Inter- and Intergenerational Transmission of a Human Mitochondrial DNA Heteroplasmy Among 13 Maternally-Related Individuals and Differences Between and Within Tissues in Two Family Members, Mitochondrion (Accessed April 30, 2024)