Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings

Abstract

The segregation of mitochondrial genomes and the inheritance of mitochondrial DNA are constant matters of debate. To obtain more information about this issue and to answer the question whether or not it is possible to distinguish mitochondrial DNA (mtDNA) samples from monozygous individuals by analysing heteroplasmic length variants, 290 monozygous and 121 dizygous twin pairs and 34 sets of multiples were studied by RFLP and partly by direct sequencing. A factor D describing the respective pattern of length variants in a given sample was also calculated. The results show that monozygous individuals exhibit a significantly lower median and closer distribution of D than non-monozygous siblings. Thus, a differentiation of mtDNA samples from monozygous twins by this trait is not possible. The high percentage of heteroplasmic individuals, the low median of the D values and the unexpectedly very similar distribution of length variants in monozygotic individuals support the existence of a relatively wide bottleneck or the assumption of a regeneration of length heteroplasmy following a tight bottleneck and agree with a random segregation of mtDNA genomes in dividing oocytes.