Search results for "LOCI"
showing 10 items of 1277 documents
Environmental effects on molecular and phenotypic variation in populations of Eruca sativa across a steep climatic gradient
2013
Abstract In Israel Eruca sativa has a geographically narrow distribution across a steep climatic gradient that ranges from mesic Mediterranean to hot desert environments. These conditions offer an opportunity to study the influence of the environment on intraspecific genetic variation. For this, we combined an analysis of neutral genetic markers with a phenotypic evaluation in common-garden experiments, and environmental characterization of populations that included climatic and edaphic parameters, as well as geographic distribution. A Bayesian clustering of individuals from nine representative populations based on amplified fragment length polymorphism (AFLP) divided the populations into a…
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
2018
Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics stud…
2008
Contains fulltext : 71374.pdf (Publisher’s version ) (Closed access) Attention-deficit/hyperactivity disorder (ADHD) is typically characterized by inattention, excessive motor activity, impulsivity, and distractibility. Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxiety disorder, depression, substance abuse, and pervasive developmental disorder (PDD). Family studies suggest that ADHD + CD represents a specific subtype of the ADHD disorder with familial risk factors only partly overlapping with t…
Chromosomal Dynamics in Cercopithecini Studied by Williams-Beuren probe mapping
2010
Chromosomal evolution in the tribe Cercopithecini and in related taxa is highly debated. Uncertainty in reconstruction is mainly related to the great genetic variability and polymorphism of the taxa. Recent molecular and karyological efforts individuate a split between genetically conservative, arbitrarily defi ned, “terrestrial” guenons and vervets, and genetically variable and derived “arboreal” guenons. We performed the mapping of WS loci probe (7q11.23) in order to verify the chromosomal dynamics of the genomes of three tree-dwelling species of the tribe: C. neglectus, C. mitis mitis, C. albogularis labiatus. Data from literature for the “ground-dwelling” Chlorocebus aethiops sabaeus ha…
Report of the European DNA profiling group (EDNAP): an investigation of the complex STR loci D21S11 and HUMFIBRA (FGA).
1997
This paper describes a collaborative exercise which was intended to demonstrate whether uniformity of DNA profiling results could be achieved between European laboratories using two complex short tandem repeat (STR) loci. The loci D21S11 and HUMFIBRA (FGA) were chosen because they are commonly used by different European laboratories. D21S11 has approximately 14 common alleles (f > 0.001), whereas HUMFIBRA has 19 common alleles. Laboratories were asked to test seven blood stains, one of which was a known control, and to report the results to the coordinating laboratory. The exercise demonstrated that complex STRs were amenable to standardisation.
Report of the European DNA profiling group (EDNAP)-an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D1…
1999
This paper describes the results of three collaborative exercises which continues the EDNAP theme to explore whether uniformity of DNA profiling results could be achieved between European laboratories using STRs. In an earlier exercise, complex hypervariable AAAG-repeat STR loci were investigated, but reproducibility was found to be poor because of the variation of techniques used by participating laboratories. In the exercise reported here, an internal allelic ladder composed of ACTBP2 and D11S554 fragments was distributed. This ladder was used to size ACTBP2 analysed by a "singleplex" PCR amplification and D11S554 combined with APOAI1 in a separate "duplex" reaction. Laboratories were ask…
Genome-wide significant association with seven novel multiple sclerosis risk loci
2015
Objective A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors. Methods The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis. Results…
Characterization of mutations and sequence variations in complex STR loci by second generation sequencing
2013
Abstract We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic…
2014
Genetic factors underlie a substantial proportion of individual differences in cognitive functions in humans, including processes related to episodic and working memory. While genetic association studies have proposed several candidate "memory genes", these currently explain only a minor fraction of the phenotypic variance. Here, we performed genome-wide screening on 13 episodic and working memory phenotypes in 1,318 participants of the Berlin Aging Study II aged 60 years or older. The analyses highlight a number of novel single nucleotide polymorphisms (SNPs) associated with memory performance, including one located in a putative regulatory region of microRNA (miRNA) hsa-mir-138-5p (rs9882…
Whole genome amplification—the solution for a common problem in forensic casework?
2004
Abstract To assess the quality of amplified DNA obtained by whole genome amplification, 17 independent STR loci have been typed using two multiplex kits. Results have been compared for correct genotypes, heterozygous peak balance and allelic dropout.