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Geneticists Unearth The Roots Of Human Genetic Variation

Date:
August 4, 2009
Source:
University of Leicester
Summary:
A new study is using advanced single molecule methods to explore processes that lie at the very core of DNA variation in humans. The study focuses on the process of 'recombination', which re-shuffles our genetic content at the time of egg and sperm production.
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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 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.

Sarbajna recently presented her research at the Festival of Postgraduate Research, which took place on the 25th June at the University of Leicester.


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The above post is reprinted from materials provided by University of Leicester. Note: Materials may be edited for content and length.


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University of Leicester. "Geneticists Unearth The Roots Of Human Genetic Variation." ScienceDaily. ScienceDaily, 4 August 2009. <www.sciencedaily.com/releases/2009/06/090623150135.htm>.
University of Leicester. (2009, August 4). Geneticists Unearth The Roots Of Human Genetic Variation. ScienceDaily. Retrieved August 29, 2015 from www.sciencedaily.com/releases/2009/06/090623150135.htm
University of Leicester. "Geneticists Unearth The Roots Of Human Genetic Variation." ScienceDaily. www.sciencedaily.com/releases/2009/06/090623150135.htm (accessed August 29, 2015).

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