Featured Research

from universities, journals, and other organizations

New NIST Procedure Seeks Improved Diagnosis Of Fragile X Syndrome

Date:
May 14, 2002
Source:
National Institute Of Standards And Technology (NIST)
Summary:
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.

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.


Story Source:

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


Cite This Page:

National Institute Of Standards And Technology (NIST). "New NIST Procedure Seeks Improved Diagnosis Of Fragile X Syndrome." ScienceDaily. ScienceDaily, 14 May 2002. <www.sciencedaily.com/releases/2002/05/020514072523.htm>.
National Institute Of Standards And Technology (NIST). (2002, May 14). New NIST Procedure Seeks Improved Diagnosis Of Fragile X Syndrome. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2002/05/020514072523.htm
National Institute Of Standards And Technology (NIST). "New NIST Procedure Seeks Improved Diagnosis Of Fragile X Syndrome." ScienceDaily. www.sciencedaily.com/releases/2002/05/020514072523.htm (accessed October 1, 2014).

Share This



More Health & Medicine News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Some Positive Ebola News: Outbreak 'Contained' In Nigeria

Newsy (Sep. 30, 2014) The CDC says a new case of Ebola has not been reported in Nigeria for more than 21 days, leading to hopes the outbreak might be nearing its end. Video provided by Newsy
Powered by NewsLook.com
UN Ebola Mission Head: Immediate Action Is Crucial

UN Ebola Mission Head: Immediate Action Is Crucial

AFP (Sep. 30, 2014) The newly appointed head of the United Nations Mission for Ebola Emergency Response (UNMEER), Anthony Banbury, outlines operations to tackle the virus. Duration: 00:39 Video provided by AFP
Powered by NewsLook.com
CDC Confirms First Case of Ebola in US

CDC Confirms First Case of Ebola in US

AP (Sep. 30, 2014) The CDC has confirmed the first diagnosed case of Ebola in the United States. The patient is being treated at a Dallas hospital after traveling earlier this month from Liberia. (Sept. 30) Video provided by AP
Powered by NewsLook.com
New Breast Cancer Drug Extends Lives In Clinical Trial

New Breast Cancer Drug Extends Lives In Clinical Trial

Newsy (Sep. 30, 2014) In a clinical trial, breast cancer patients lived an average of 15 months longer when they received new drug Perjeta along with Herceptin. Video provided by Newsy
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