By Anne Boshove
The most common structural chromosomal abnormalities in humans and livestock are Reciprocal Translocations (RTs). An RT occurs when two different chromosomes exchange a part of their DNA with each other. This leads to reduced fertility of the carrier, as they have the chance to pass on an incomplete set of genetic information which is often not viable. RTs can be detected by karyotyping, where the chromosomes are visualized and manually inspected for abnormalities; a long and expensive process.
In our study we present a different method of detecting RTs by inspecting linkage disequilibrium (LD) patterns in the genotyped offspring of potential RT-carriers. LD is a measure indicating how likely two locations on the genome are to be inherited together.
We show that LD patterns are significantly different in offspring of RT carriers, and that we can confidently detect RTs when there are 30+ offspring genotypes available.
Additionally, we analysed the reproductive performance of several RT-carriers and observe a significantly lower litter size of on average -35%. Our research provides an easy and cost-effective tool to screen for RTs in populations that are not karyotyped, and thereby helps us to maintain high levels of fertility in our populations.
