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
National Institute of Standards and Technology (NIST)

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:
TAG: New NIST procedure seeks improved diagnosis Fragile syndrome

(Date:9/24/2015)... Publiceringsförbud fram till: ... Kerv ( http://kerv.com ), det Londonbaserade ... första kontaktlösa betalningsring på kickstarter.com i ett ... för massproduktion via crowdfunding.       ... Kerv-bärare kan göra direkta kontaktlösa betalningar ...
(Date:9/10/2015)... Sept. 10, 2015 Pursuant Health has ... to create an interactive, image-based health risk assessment ... wellness kiosk.  The unique assessment quantifies user results ... that suggests an individual,s biological age based on ... measured by the kiosk. Comprised of ...
(Date:9/8/2015)... , Sept. 8, 2015  Affectiva, global ... Emotion as a Service, a new data solution, ... Based on Affectiva,s highly accurate and patented ... analytics capabilities, slated to transform industries such as ... development, retail, customer experience, online education, HR, automotive, ...
Breaking Biology News(10 mins):
(Date:10/9/2015)... Governor Tom Wolf announced today that Adaptimmune ... T-cell receptor cancer immunotherapy treatments, will create at least ... Pennsylvania , and today,s announcement ... high-paying jobs will be created with this project," said ... sustained funding for the life science sector and increased ...
(Date:10/9/2015)... Oct. 9, 2015  DePuy Synthes Trauma* announced today ... Q-PACK ®  Technology**, the only pre-hydrated demineralized cancellous ... procedures (foot and ankle, hand and wrist), including fusion, ... here at the 2015 Orthopaedic Trauma Association (OTA) Annual ... scaffold for new bone growth) and osteoinductive 2,3 ...
(Date:10/9/2015)... ... October 09, 2015 , ... ... the current methods of separating those cells from their surroundings for research, diagnostics, ... the cells. , To address this, Ann Arbor-based startup Akadeum Life Sciences ...
(Date:10/8/2015)... ... October 08, 2015 , ... Researchers at the University of Washington (UW) ... providing a new tool to study how diseases like dementia, Alzheimer's, and brain tumors ... and Ruikang Wang of the UW Department of Bioengineering, today in the Journal ...
Breaking Biology Technology:
Cached News: