Featured Research

from universities, journals, and other organizations

New NIST Reference Material Reinforces Fragile-X Screens

Date:
March 1, 2005
Source:
National Institute Of Standards And Technology
Summary:
A new Standard Reference Material from the National Institute of Standards and Technology (NIST) will help clinical genetics labs improve the accuracy of their diagnostic tests for the most common cause of hereditary mental retardation.

NIST researcher Kristy Richie analyses DNA samples as part of a project to prepare new "Fragile X" reference materials. ( Robert Rathe)

A new Standard Reference Material from the National Institute of Standards and Technology (NIST) will help clinical genetics labs improve the accuracy of their diagnostic tests for the most common cause of hereditary mental retardation.

Related Articles


“Fragile X Syndrome” is a genetic mutation affecting approximately one in 3,600 males and one in 4,000 to 6,000 females. It has been linked to several physical abnormalities and to intellectual problems ranging from minor learning disabilities to severe mental retardation and autism. The mutation is characterized by an excessive number of repeats of a sequence of three nucleotides (the chemical building blocks of DNA) within a particular gene on the human X chromosome.

Proper diagnosis depends critically on accurate counts of the number of triplet repeats. Individuals with up to 44 repeats are normal; individuals with 55 to 200 repeats fall into the premutation category (unaffected, but the number of repeats can increase in their children, who can then be affected); and those with 200 or more repeats have the full mutation and Fragile X syndrome. In general, the symptoms of the disorder become more severe as the number of repeats increases.

To assist clinical diagnostic and genetic testing laboratories in accurately counting fragile-X repeat sequences, NIST has developed a new reference material that can be used as a check on test procedures and for quality control. SRM 2399, “Fragile X Human DNA Triplet Repeat Standard” consists of nine samples of DNA measured and certified by NIST for triplet repeats ranging from 20 to 118. The triplet repeat standard joins more than 50 reference materials produced by NIST for quality control in clinical testing.


Story Source:

The above story is based on materials provided by National Institute Of Standards And Technology. Note: Materials may be edited for content and length.


Cite This Page:

National Institute Of Standards And Technology. "New NIST Reference Material Reinforces Fragile-X Screens." ScienceDaily. ScienceDaily, 1 March 2005. <www.sciencedaily.com/releases/2005/02/050225105325.htm>.
National Institute Of Standards And Technology. (2005, March 1). New NIST Reference Material Reinforces Fragile-X Screens. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2005/02/050225105325.htm
National Institute Of Standards And Technology. "New NIST Reference Material Reinforces Fragile-X Screens." ScienceDaily. www.sciencedaily.com/releases/2005/02/050225105325.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins