Scientists unearth the roots of human genetic variation

Jun 23 2009

A new study at the University of Leicester is using advanced single molecule methods to explore processes that lie at the very core of DNA variation in humans.

The study by researcher Shriparna Sarbajna focuses on the process of 'recombination', which re-shuffles our genetic content at the time of egg and sperm production.

This 're-shuffling' creates new combinations that are passed on to future generations. Ultimately, these new combinations accumulate over many years to generate the patterns of genetic variations seen in contemporary human populations.

Doctoral research by Sarbajna uses techniques pioneered by world-renowned geneticist Professor Sir Alec Jeffreys, to analyse human sperm DNA molecules. These techniques are ultimately used to directly understand the nature, location and frequency of changes occurring in our DNA.

Sarbajna will be presenting her research at the Festival of Postgraduate Research, which is taking place on Thursday 25th June in the Belvoir Suite, Charles Wilson Building at the University of Leicester between 11.30am and 1pm.

Sarbajna said: "These studies are enabling us to explore the very basis of human genetic variation and aiding our understanding of how errors in the process produce pathological changes like those associated with conditions such as alpha thalassaemia and Down syndrome."

"Our research has far reaching consequences, ranging from assisting in genetic counselling through identifying factors contributing to infertility and chromosomal abnormalities, to understanding pathogenic rearrangements frequently seen in cancers and some inherited disorders."

"Interestingly, understanding how recombination influences patterns of diversity can also shed valuable light into the history and origins of various human populations. Studying recombination is thus, not only of basic scientific importance, but also allows valuable insights into issues ranging from medicine to history and ancestry."

"At the heart of the problem is the fact that although vast catalogues of human genetic variation now exist, little is known about the processes that give rise to these in the first place."

This research is funded by The Royal Society, the U.K. Medical Research Council and the Louis-Jeantet Foundation.