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:6/26/2016)... ... 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)... ... June 25, 2016 , ... First Choice Emergency Room , the ... Ogunleye, as the Medical Director of its new Mesquite-Samuell Farm facility. , “We ... new Mesquite location,” said Dr. James M. Muzzarelli, Executive Medical Director of First Choice ...
(Date:6/24/2016)... ... June 24, 2016 , ... A recent article published June ... with. The article goes on to state that individuals are now more comfortable seeking ... common operations such as calf and cheek reduction. The Los Angeles area medical group, ...
(Date:6/24/2016)... ... June 24, 2016 , ... Global law firm Greenberg ... Legal Elite. The attorneys chosen by their peers for this recognition are considered among ... Greenberg Traurig Shareholders received special honors as members of this year’s Legal Elite Hall ...
(Date:6/24/2016)... ... June 24, 2016 , ... EB Medicine presented ... in Emergency Medicine conference in Ponte Vedra Beach, FL. The awards honor the ... Emergency Medicine Practice and Pediatric Emergency Medicine Practice. , “With this award, ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... LONDON , June 23, 2016 ... environments  Oticon , industry leaders in ... the launch of Oticon Opn ™, the world,s ... world of possibilities for IoT devices.      ... Opn, Oticon introduces a number of ,world firsts,: ...
(Date:6/23/2016)... Research and Markets has announced ... Analysis (United States, China, Japan, Brazil, United Kingdom, Germany, ... offering. Surgical Procedure ... planners, provides surgical procedure volume data in a geographic ... in-depth analysis of growth drivers and inhibitors, including world ...
(Date:6/23/2016)... , June 23, 2016  The National Pharmaceutical ... joined the health policy research organization as its ... , MD, senior vice president and chief scientific ... representative on the NPC Board of Directors. ... that Mallinckrodt has joined us in support of ...
Breaking Medicine Technology: