Navigation Links
New Diagnostic Tool Uncovered Gene Expression Patterns in Recessive Genetic Disorders

A new diagnostic method has been discovered by two scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania to study //medical disorders that are recessively inherited.

Gene expression patterns in carriers of genetic diseases would differ significantly and this new diagnostic tool was found to depend on microarray technology to identify differences in genome-wide expression profiles.

As a model for their work, Cheung and Ewens used a rare recessive disease known as Nijmegen breakage syndrome (NBS). Only one gene – called NBS1 – is known to be causative for NBS, although there are multiple disease-initiating variants of this gene in different human populations. Individuals who possess deleterious mutations in both copies of NBS1 exhibit reduced head sizes, slowed growth rates, immunodeficiency, and a predisposition to cancer. Heterozygous carriers – who possess only one copy of the causative gene variant – appear normal, although some reports have suggested that heterozygotes may have an increased risk of cancer.

Using microarray technology, which simultaneously ascertains the expression patterns of thousands of genes, Cheung and Ewens discovered that heterozygous carriers of NBS exhibited distinct gene expression patterns when compared to controls. Of 3,928 genes that were expressed in the NBS carriers and controls, 520 consistently exhibited differences between the two groups.

Cheung and Ewens identified a set of 16 genes whose expression patterns could reliably discriminate between carriers and non-carriers of NBS. The genes could also distinguish carriers of NBS from carriers of a closely related syndrome known as ataxia telangiectasia. Therefore, these 16 predictive genes can be used to develop clinical tests to identify carriers of NBS.

Similar approaches can be extended for developing diagnostic tests for carriers of other recessive genetic disorders. Even though most recessive diseases are rare, many individuals are carriers for recessive genetic disorders: on average, each person is a carrier for three or four deleterious, disease-causing mutations. An approach to effectively identify carriers of these diseases would be welcomed by the medical community, especially in cases where the disease-causing mutation is unknown or uncharacterized at the DNA level.

Based on the results of the study, Cheung and Ewens also suggest that recessive mutations can significantly contribute to human variation. ‘If each of us is a carrier for three or four harmful recessive mutations, and if the expression levels of several hundred genes are altered for each of these mutations, then heterozygosity for recessive mutations plays a significant role in human variation and in the overall genetic architecture of complex human traits and diseases,’ explains Cheung.

Source: Eurekaert
'"/>




Related medicine news :

1. Cancer Risk From Exposure To Diagnostic X-Rays
2. Fragile X-Associated Tremor /Ataxia Syndrome Need Guidelines For Diagnostic Tests
3. Schizophrenia Gets A New Diagnostic Tool
4. A New Diagnostic Approach To Pediatric Interstitial Lung Disease
5. Diagnostic Procedure For Tuberculosis Made Easy
6. Apollo Hospitals Short-listed to Provide Diagnostics in the UK
7. Diagnostic Test Launched by Ranbaxy for En Masse Screening of Bird Flu
8. Diagnostic Centre Inaugurated for Air Pollution at SRMC
9. Lab Tests And Diagnostics - Next Wave Of Outsourcing
10. eGFR Diagnostic Test -A reliable and understandable measure of kidney impairment
11. Obesity Hinders Medical Diagnostic Tests
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/27/2016)... ... June 27, 2016 , ... ... professionals, announced today its affiliation with Tennessee Counseling Association. This new ... network of the Tennessee Counseling Association, adding exclusive benefits and promotional offers. , ...
(Date:6/27/2016)... KS (PRWEB) , ... June 27, 2016 , ... TopConsumerReviews.com ... retailers of Eyeglasses . , Millions of individuals in the United States and ... have become a way to both correct vision and make a fashion statement. Even ...
(Date:6/26/2016)... ... June 26, 2016 , ... Pixel Film Studios Released ... , "Film editors can give their videos a whole new perspective by using the ... CEO of Pixel Film Studios. , ProSlice Levels contains over 30 Different presets ...
(Date:6/26/2016)... ... June 26, 2016 , ... Many ... been diagnosed with endometriosis. These women need a treatment plan to not only ... approach that can help for preservation of fertility and ultimately achieving a pregnancy. ...
(Date:6/25/2016)... ... ... Bruton Memorial Library on June 21 due to a possible lice infestation, as reported by ... lice: the parasite’s ability to live away from a human host, and to infest common ... the event that lice have simply gotten out of control. , As lice are a ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... , June 27, 2016  VMS Rehab Systems, Inc. ... will take whatever measures required to build a strong ... which is currently listed on the OTC Markets-pink current ... Chairman and CEO, "We are seeing an anomaly in ... understand, not only by the Company, but shareholders and ...
(Date:6/24/2016)... Calif. , June 24, 2016  Global ... a biopharmaceutical company developing novel therapeutics for the ... needs, today announced the closing of its previously ... common stock, at the public offering price of ... the offering were offered by GBT. GBT estimates ...
(Date:6/24/2016)... , June 24, 2016 The Academy of ... recommendations that would allow biopharmaceutical companies to ... entities that make formulary and coverage decisions, a move ... of new medicines. The recommendations address restrictions ... appear on the drug label, a prohibition that hinders ...
Breaking Medicine Technology: