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.
Michael Baum | EurekAlert!
Newly designed molecule binds nitrogen
23.02.2018 | Julius-Maximilians-Universität Würzburg
Atomic Design by Water
23.02.2018 | Max-Planck-Institut für Eisenforschung GmbH
A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.
In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...
A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.
By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...
Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...
For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.
In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...
Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale
Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...
15.02.2018 | Event News
13.02.2018 | Event News
12.02.2018 | Event News
23.02.2018 | Physics and Astronomy
23.02.2018 | Health and Medicine
23.02.2018 | Physics and Astronomy