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:12/4/2016)... ... December 03, 2016 , ... While James Earl Jones is known for myriad ... a show called "Front Page". One of the forthcoming episodes examines mammogram techniques; a ... plummeted in large part due to early detection. Like any other disease, treatments have ...
(Date:12/4/2016)... ... December 04, 2016 , ... Patients ... can now take advantage of a cosmetic procedure known as Carbon Dioxide ... reduces the appearance of age spots, fine lines, uneven coloration, wrinkles, scarring, ...
(Date:12/2/2016)... ... , ... Lori G. Cohen and Sara K. Thompson , ... American Conference Institute’s 21st Drug & Medical Device Litigation Conference , taking place ... conference. , Cohen, who chairs the firm’s Pharmaceutical, Medical Device & Health Care Litigation ...
(Date:12/2/2016)... AL (PRWEB) , ... December 02, 2016 , ... ... from across the Dothan-Wiregrass Area in Alabama are expected to attend the UNCF ... Schmitz, will help provide scholarship funds for area students and operating support to ...
(Date:12/2/2016)... ... ... The annual time frame to change Medicare health and prescription drug coverage, known ... Medicare beneficiaries who are looking to switch from their current plan to a Medicare ... during this period order for their new policy to go into effect in 2017. ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... , December 2, 2016 ... "In Vitro Diagnostics/IVD Market by Product (Instruments, Reagents, ... Application (Diabetes, Oncology, Cardiology, Nephrology, Infectious Diseases) - ... market is valued at USD 60.22 Billion in ... a CAGR of 5.5% during the forecast period ...
(Date:12/2/2016)... , December 2, 2016 ... Awards Committee honored excellence in research, development and innovation ... The gala dinner was held in the presence of ... the Russian Federation , Natalia Sanina, ... Mikhail Murashko , Head of Roszdravnadzor, National Service ...
(Date:12/2/2016)... RICHMOND, British Columbia , December 2, 2016 ... Produkt, den INSTI HIV-Selbsttest, bei den Mitgliedern des Apothekenbundes von Kenia eingeführt. ... ... INSTI HIV Self Test! (PRNewsFoto/bioLytical Laboratories) ...      (Photo: http://photos.prnewswire.com/prnh/20161201/444905 ) ...
Breaking Medicine Technology: