Search results for "FREQUENCY"

The frame-shift mutation of the NOD2/CARD15 gene is significantly increased in ulcerative colitis: An ∗IG-IBD study

2004

Testing for goodness rather than lack of fit of an X–chromosomal SNP to the Hardy-Weinberg model

2019

The problem of checking the genotype distribution obtained for some diallelic marker for compatibility with the Hardy-Weinberg equilibrium (HWE) condition arises also for loci on the X chromosome. The possible genotypes depend on the sex of the individual in this case: for females, the genotype distribution is trinomial, as in the case of an autosomal locus, whereas a binomial proportion is observed for males. Like in genetic association studies with autosomal SNPs, interest is typically in establishing approximate compatibility of the observed genotype frequencies with HWE. This requires to replace traditional methods tailored for detecting lack of fit to the model with an equivalence test…

Iodine hyperfine structure and absolute frequency measurements at 565, 576, and 585nm

2006

Abstract The hyperfine structure splittings of the P(10)14-1, R(15)14-1, and R(99)15-1 transitions at 585 nm, P(62)17-1 at 576 nm, and P(80)21-1 at 565 nm in 127 I 2 are measured by heterodyne spectroscopy using two dye lasers. In addition, the absolute frequencies of the hyperfine components P(10)14-1 a 15 and P(80)21-1 a 10 are determined using a self-referenced frequency comb. These frequencies are used in an experiment testing relativistic time dilation by laser spectroscopy on a fast ion beam.

Laser heterodyne displacement measuring using PLZT frequency shifter

1991

Abstract The implementation of a frequency shifter based on lead lanthanum zirconate titanate ceramic (PLZT) and a voltage-controlled λ/4 plate is described. The capabilities of these elements are demonstrated with results from a Michelson-type laser heterodyne displacement measuring interferometer with 0.01 μm accuracy and 1 Hz display update rate.

Kinetic Aspects of Heterogeneous Catalytic Versus Photocatalytic Reactions

2019

Abstract Kinetics aspects of heterogeneous catalysis and photocatalysis are reported together with the most used models developed for both fields. The chapter describes the main mechanisms involved in the different processes and the parameters used to determine their performances. A comparison of the behaviors and kinetics features of heterogeneous catalysis and photocatalysis is presented.

Decoupled Downlink-Uplink Coverage Analysis with Interference Management for Enriched Heterogeneous Cellular Networks

2016

Heterogeneous cellular networks (HetCNets) offer a promising solution to cope with the current cellular coverage crunch. Due to the large transmit power disparity, while following maximum power received (MPR) association scheme, a larger number of users are associated with macro-cell BS (MBS) than small-cell BSs (SBSs). Therefore, an imbalance load arrangement takes place across the HetCNets. Hence, using cell range expansion-based cell association, we can balance the load across the congested MBS. However, using MPR association scheme, users’ offloading leads to two challenges: 1) macro-cell interference , in which the MBS interferes with the offloaded users, and 2) coupled downlink-uplink…

Analysis of load balancing and interference management in heterogeneous cellular networks

2017

To meet the current cellular capacity demands, proactive offloading is required in heterogeneous cellular networks (HetCNets) comprising of different tiers of base stations (BSs), e.g., small-cell BSs (sBSs) and conventional macro-cell BSs (mBSs). Each tier differs from the others in terms of BS transmit power, spatial density, and association bias. Consequently, the coverage range of each tier BSs is also different from others. Due to low transmit power, a fewer number of users are associated to an sBS as compared with mBS. Thus, inefficient utilization of small-cell resources occurs. To balance the load across the network, it is necessary to push users to the underloaded small cells from …

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

2012

Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism. Methods: We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predictions for regulatory potential and di…

Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

Genetic variation of European beech (Fagus sylvatica L.) along an altitudinal transect at mount Vogelsberg in Hesse, Germany

2000

Allelic and genotypic variation at 13 different enzyme loci of autochthonous European beech (Fagus sylvatica L.) was investigated in six 110-160-year-old stands growing at elevations between 150 and 660 m above sea level on the western slope of mount Vogelsberg in central Germany. The highest elevated population showed the highest number of effective alleles (Ne), the highest total heterozygosity (He) and the highest population differentiation deltaT. Also, the genotype SKD-A2A3 of shikimate dehydrogenase was significantly more frequent at the two highest elevated stands (P = 11%) than at the three lowest elevated stands (P = 1%). Further differences in genotype frequencies between 11 of 15…