Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New NIST reference material reinforces fragile-x screens

25.02.2005


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.



"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.

Michael Baum | EurekAlert!
Further information:
http://www.nist.gov

More articles from Life Sciences:

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

nachricht CWRU researchers find a chemical solution to shrink digital data storage
22.06.2017 | Case Western Reserve University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

Im Focus: Optoelectronic Inline Measurement – Accurate to the Nanometer

Germany counts high-precision manufacturing processes among its advantages as a location. It’s not just the aerospace and automotive industries that require almost waste-free, high-precision manufacturing to provide an efficient way of testing the shape and orientation tolerances of products. Since current inline measurement technology not yet provides the required accuracy, the Fraunhofer Institute for Laser Technology ILT is collaborating with four renowned industry partners in the INSPIRE project to develop inline sensors with a new accuracy class. Funded by the German Federal Ministry of Education and Research (BMBF), the project is scheduled to run until the end of 2019.

New Manufacturing Technologies for New Products

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

A new technique isolates neuronal activity during memory consolidation

22.06.2017 | Life Sciences

Plant inspiration could lead to flexible electronics

22.06.2017 | Materials Sciences

A rhodium-based catalyst for making organosilicon using less precious metal

22.06.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>