HOME >> BIOLOGY >> NEWS
New NIST procedure seeks improved diagnosis of Fragile X syndrome

A robust protocol for measuring a specific class of genetic elements called "trinucleotide repeats" has been optimized at the National Institute of Standards and Technology (NIST) to help clinical laboratories accurately identify Fragile X syndrome, the most common cause of inherited mental retardation. The research is part of a NIST effort to develop standards for measuring the expansion of these trinucleotide repeats. The NIST protocol responds to the guidelines recently issued by the American College of Medical Genetics, which recognized that Fragile X is one of the most frequently ordered genetic tests and that there are many testing methods with different strengths and weaknesses.

Fragile X syndrome results from the repetition of a particular sequence of three chemical units on the X chromosome. About 30 repeats is normal; higher numbers, especially in the range of 60 to 200, indicate an unstable "premutation" repeat length. As the number of repeats increases in successive generations, the production of a certain protein is shut off and symptoms of the disease appear or become more severe. Thus, accurate measurement of the size of the affected region of the chromosome is important as a diagnostic indicator of the disease and likelihood in future generations.

Current methods become less reliable when the number of repeats exceeds 100. The NIST protocol establishes specific conditions for the creation of multiple copies of the genetic material and their analysis. NIST initially focused on repeat sizes of about 30 to 110; future work will assess methods for measuring larger repeat elements.


'"/>

Contact: Michael E. Newman
michael.newman@nist.gov
301-975-3025
National Institute of Standards and Technology (NIST)
13-May-2002


Page: 1

Related biology news :

1. Researchers learn certain enzyme inhibitors may help in cancer therapy following initial procedures
2. UT Southwestern researchers developing new procedures to make bone-marrow transplants safer
3. Basic motion measuring technology may be alternative to more expensive testing procedures
4. Cognitive testing reduces risks of procedure for brain arteriovenous malformations
5. UFS Mcknight Brain Institute researchers: Pioneering spinal cord procedure appears safe
6. Nature sights and sounds can ease pain of common lung procedure
7. New imaging technique could improve outcome of popular heart procedure
8. Minimally invasive procedure offers long-term pain relief for patients with pancreatitis
9. Licensing procedure for genetically modified organisms turns out to be fallible
10. Parathyroid tumors can be removed safely in outpatient procedure
11. New study seeks to establish mechanism between areas of the brain and continence

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: New NIST procedure seeks improved diagnosis Fragile syndrome

(Date:8/19/2015)... , Aug. 19, 2015  VOXX International Corporation ... has entered into a Definitive Agreement to purchase ... iris authentication market leader EyeLock through an acquiring ... have a controlling interest in the acquiring entity. ... completion of due diligence.  Expanding on its existing ...
(Date:8/12/2015)... Minn. , Aug. 12, 2015   MedNet ... supports the entire spectrum of clinical research, is proud ... , the company,s comprehensive SaaS-based eClinical technology platform, has ... during the first two quarters of 2015.   Q2 ... second largest quarters measured by contract value sold in ...
(Date:8/11/2015)... Today, ZUK announced its Android smartphone Z1, ... expected revenues in 2015 that relate to sales of FPC1155 for ... approximately 2,200 MSEK for 2015. Jörgen Lantto, CEO of ... smartphone manufacturer in China and ... 155 for Z1 , ...
Breaking Biology News(10 mins):VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 2VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 3VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 4VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 5MedNet Solutions Experiences Explosive Corporate Growth 2FPC's Touch Fingerprint Sensor FPC1155 in ZUK's Smartphone Z1 2
(Date:8/31/2015)... Trimb Healthcare AB ("Trimb") today announced that ... BV ("YouMedical"), a Dutch OTC company with operations in ... approximately EUR 16 million, with solid growth and leading ... is to build a leading international OTC company, and ... YouMedical gives us a stronger North European OTC platform, ...
(Date:8/30/2015)... , August 31, 2015 ... einer Frau   für chirurgische   Behandlung     ... 7-90   werden für eine   verheerende   ... Frauen behandeln und die Anzahl ausgebildeter Chirurgen in Kenia ... Astellas gab heute bekannt, dass  Action on Fistula  seit ...
(Date:8/28/2015)... , Aug. 28, 2015 /PRNewswire/ - RepliCel ... stage regenerative medicine company focused on the development ... for the quarter ended June 30, 2015, corporate ... and management report are available at www.sedar.com ... . "RepliCel expects to launch ...
(Date:8/27/2015)... 27, 2015  Neogen Corporation (NASDAQ: NEOG ) ... United Kingdom -based Lab M Holdings, ... and diagnostic systems. Lab M was ... provider of microbial testing and diagnostic products for the ... company currently sells into more than 70 countries worldwide, ...
Breaking Biology Technology:Über 550 Frauen, deren Leben durch "Action on Fistula" transformiert wurde 2Über 550 Frauen, deren Leben durch "Action on Fistula" transformiert wurde 3Über 550 Frauen, deren Leben durch "Action on Fistula" transformiert wurde 4Über 550 Frauen, deren Leben durch "Action on Fistula" transformiert wurde 5RepliCel Reports Second Quarter 2015 Financial Results 2RepliCel Reports Second Quarter 2015 Financial Results 3RepliCel Reports Second Quarter 2015 Financial Results 4RepliCel Reports Second Quarter 2015 Financial Results 5Neogen acquires U.K.-based Lab M Holdings 2
Cached News: