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Glossary

SNP (single nucleotide polymorphism)

An SNP (single nucleotide polymorphism) is a single chemical unit (base pair) variation in a stretch of DNA. Human DNA is estimated to vary only 1 in every 1000 base pairs between any two people.



Articles using this Glossary Item

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First genetic link to bone marrow cancer identified

05 December 2011 - by Dr Zara Mahmoud

Two new gene variants, which each increase the risk of bone marrow cancer by 30 percent, have been identified by scientists at the Institute for Cancer Research...[Read More]

Ten questions for Lone Frank, author of 'My Beautiful Genome'

03 October 2011 - by Dr Vivienne Raper and Ruth Saunders

'We are not our genomes'. Lone Frank, the author of 'My Beautiful Genome – Exposing our Genetic Quirks, One Genome at a Time' spoke to BioNews about her latest book, the recent surge in direct-to-consumer genetic tests, the ethical dilemmas they could pose and what we can understand from such tests. As he says, 'genetics is a work in progress'...[Read More]

Genome blueprint of mice helps understanding of human genetics

19 September 2011 - by Dr Lux Fatimathas

International researchers have mapped over 55 million genetic variations in the mouse genome in the hopes of better understanding human disease. The genomes of 17 strains of mice were analysed and variations in their DNA, called SNPs, were catalogued...[Read More]

Book Review: Genetic Twists of Fate

19 September 2011 - by Ruth Saunders

News reports that researchers have linked a certain gene to a disease, condition or trait appear almost daily. The most recent include multiple sclerosis, ovarian cancer, schizophrenia and even intelligence...[Read More]

Blood pressure linked to genetic variations

19 September 2011 - by Dr Zara Mahmoud

Scientists have identified 29 regions of the genome associated with hypertension in people of European origin. Of these, 16 areas contained completely new genes, which had not been previously associated with the risk of developing high blood pressure....[Read More]

Book Review: Celebrating 75 Extraordinary Years

12 September 2011 - by Oliver Timmis

On 25 July 2011 the Wellcome Trust turned 75, and to celebrate they have commissioned a collection of 15 stories based on some of the most interesting people they have funded...[Read More]

Study finds new genes linked to migraine

20 June 2011 - by Chris Chatterton

Scientists have carried out a large genome-wide association study (GWAS) looking into SNPs (single nucleotide polymorphisms) potentially associated with migraine and have discovered three new genes that may be associated with the condition...[Read More]

Scientists uncover 'key gene' linked to regulation of body fat

23 May 2011 - by Kimberley Bryon

Scientists say they have found a 'master regulator' gene, KLF14, which controls how active some fat metabolism genes are in your fat cells....[Read More]

Researchers discover gene linked to rare brain disorder

09 May 2011 - by Rosemary Paxman

A gene mutation thought to be responsible for the rare hereditary brain disorder Kufs disease has been identified, scientists report. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia...[Read More]

Epigenomic research sheds light on complex disease

04 April 2011 - by Dr Lux Fatimathas

US researchers have revealed how changes in regions of DNA that do not code for genes can affect disease. The majority of the human genome is composed of non-protein coding regions of DNA. Changes in these regions are associated with disease susceptibility, but precisely how these changes function is unclear...[Read More]

Science 'express concern' over publication of 'flawed' longevity gene paper

06 December 2010 - by Owen Clark

Serious doubts have been raised over the validity of a study on the genetic basis on longevity published in the journal Science....[Read More]

Study finds new genes linked to anorexia

29 November 2010 - by Dr Lux Fatimathas

Several genetic markers associated with the psychiatric disorder anorexia nervosa (AN) have been identified. American researchers carried out the first, large-scale genome-wide association study (GWAS) for AN...[Read More]

Study finds new genetic links to psoriasis

25 October 2010 - by Matthew Smart

An international research team has published data from a group of studies, which have uncovered new genetic variants associated with the autoimmune disease, psoriasis....[Read More]

Genetic role in Vitamin E metabolism

25 October 2010 - by Ken Hanscombe

Two commonly occurring genetic variants in the human CYP4F2 gene have been found to affect metabolism of vitamin E. Vitamin E is a generic term for a group of fat-soluble compounds and consists of eight chemical forms...[Read More]

Obesity genetics goes 'pear-shaped'

18 October 2010 - by Chris Chatterton

Scientists from the GIANT (Genetic Investigation of Anthropometric Traits) consortium have identified new genetic markers linked to body shape and obesity...[Read More]

The Irish are different - genetically

13 September 2010 - by Dr Rachael Panizzo

The genome of an Irish man has been fully sequenced for the first time, and reveals a unique 'Irish genetic signature'. Professor Brendan Loftus from the Conway Institute at University College Dublin, who led the study, hopes that the findings will contribute to the understanding of genetic diversity...[Read More]

Studies find gene variants linked to blood cholesterol levels

16 August 2010 - by Chris Chatterton

Two new studies published in Nature have found...[Read More]

DNA used to pinpoint ancestors' villages

12 July 2010 - by Dr Rachael Panizzo

An individual's genome can be used to accurately predict their ancestral origin, to the nearest five miles, a new study has found...[Read More]

Genes linked to brain aneurysm risk found

12 April 2010 - by Ailsa Stevens

Three new gene variants have been linked to increased risk of brain aneurysms in the largest ever genome-wide study of its kind. The discovery brings the total number of gene variants linked to the condition up to five and paves the way for more targeted drug treatments and early screening tests...[Read More]

Genetic information doesn't improve breast cancer risk prediction, large study finds

22 March 2010 - by Dr Rachael Panizzo

Breast cancer risk prediction does not improve significantly when genetic information is included in the risk prediction model, a new study published in the New England Journal of Medicine has found....[Read More]

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Events using this Glossary Item

 

Genetic Testing in the 21st Century: Should We Screen the Human Embryonic Genome before Implantation?
08 March 2011 1.15pm-1.55pm Darwin Lecture Theatre, Darwin Building, University College London, Gower Street, London WC1E 6BT
A presentation by Dr Joyce Harper to mark International Women's Day...[Read More]


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