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Rousset François F Université Montpellier 2, CNRS, Institut des Sciences de l'Évolution, France; Institut de Biologie Computationnelle, Montpellier, France. Electronic address: - - 2014
Chromosomal inversions allow genetic divergence of locally adapted populations by reducing recombination between chromosomes with different arrangements. While patterns of genetic variation within inverted regions are increasingly documented, inferential methods are largely missing to analyze such data. Previous work has provided expectations for coalescence patterns of neutral sites linked to ...
Jacquin Laval - - 2014
Numerous methods have been developed over the last decade to predict allelic identity at unobserved loci between pairs of chromosome segments along the genome. These loci are often unobserved positions tested for the presence of quantitative trait loci (QTL). The main objective of this study was to understand from a ...
Hodgson Jason A JA Department of Life Sciences, Silwood Park Campus, Imperial College London, Ascot, Berkshire, United - - 2014
Genetic studies have identified substantial non-African admixture in the Horn of Africa (HOA). In the most recent genomic studies, this non-African ancestry has been attributed to admixture with Middle Eastern populations during the last few thousand years. However, mitochondrial and Y chromosome data are suggestive of earlier episodes of admixture. ...
Gupta Sarika S National Institute of Plant Genome Research (NIPGR), Aruna Asaf Ali Marg, JNU Campus, New Delhi, 110 067, - - 2014
Association analyses accounting for population structure and relative kinship identified eight SSR markers ( p < 0.01) showing significant association ( R (2)  = 18 %) with nine agronomic traits in foxtail millet. Association mapping is an efficient tool for identifying genes regulating complex traits. Although association mapping using genomic simple sequence repeat (SSR) ...
Herzog Eva E Institute of Agronomy and Plant Breeding II, Justus Liebig University, Giessen, - - 2014
Introgression libraries are valuable resources for QTL detection and breeding, but their development is costly and time-consuming. Selection strategies for the development of introgression populations with a limited number of individuals and high-throughput (HT) marker assays are required. The objectives of our simulation study were to design and compare selection ...
Khurana Priyanka P Department of Anthropology, School of Applied Sciences, Dr. Harisingh Gour University, Sagar, Madhya Pradesh, - - 2014
The present study was carried out in the Indo-European speaking tribal population groups of Southern Gujarat, India to investigate and reconstruct their paternal population structure and population histories. The role of language, ethnicity and geography in determining the observed pattern of Y haplogroup clustering in the study populations was also ...
Lee I-Te IT Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung 40705, Taiwan ; School of Medicine, Chung Shan Medical University, Taichung 40201, Taiwan ; School of Medicine, National Yang-Ming University, Taipei 11221, - - 2014
Introduction. We examined whether the variant at chromosome 9p21, rs4977574, was associated with long-term cardiovascular mortality in Han Chinese patients with coronary artery disease (CAD). Methodology. Subjects who underwent coronary angiography for chest pain were consecutively enrolled. Fasting blood samples were collected for laboratory and genotype assessments. The information was ...
Hutchinson Mark N MN South Australian Museum, North Terrace, Adelaide 5000. Australia; Email: - - 2014
The taxonomy of central Australian populations of geckos of the genus Gehyra has been uncertain since chromosomal studies carried out in the 1970s and 1980s revealed considerable heterogeneity and apparently independent patterns of morphological and karyotypic diversity. Following detailed molecular genetic studies, species boundaries in this complex have become clearer ...
Petrejcíková Eva - - 2014
Human Y-chromosome haplogroups are important markers used mainly in population genetic studies. The haplogroups are defined by several SNPs according to the phylogeny and international nomenclature. The alternative method to estimate the Y-chromosome haplogroups is to predict Y-chromosome haplotypes from a set of Y-STR markers using software for Y-haplogroup prediction. ...
Matteini A M - - 2013
Activation of inflammatory pathways measured by serum inflammatory markers such as interleukin-18 (IL-18) and interleukin-1 receptor antagonist (IL-1ra) is strongly associated with the progression of chronic disease states in older adults. Given that these serum cytokine levels are in part a heritable trait, genetic variation may predict increased serum levels. ...
Diegoli Toni M - - 2014
314 African American, 434 U.S. Caucasian, and 398 U.S. Hispanic individuals were typed at X STR markers DXS6795, DXS9902, DXS8378, DXS7132, DXS6803, DXS6789, DXS7424, DXS101, GATA172D05, DXS7130, GATA165B12, HPRTB, GATA31E08, DXS10147, DXS7423. High forensic efficiency parameter values confirm the potential usefulness of these markers in certain specific kinship situations involving ...
Yunis Juan J JJ Departamento de Patología, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C, - - 2013
Introduction: Y chromosome STR haplotypes have been widely used in population studies to establish the origin of diverse populations. Objective: We analyzed Y chromosome STR haplotypes (8 loci) in 134 Caucasian-mestizo and 137 African-descent Colombian unrelated individuals to correlate the geographical origin with historical data as well as the genetic ...
Bruschi Daniel Pacheco - - 2013
The taxonomic and phylogenetic relationships of the genus Phyllomedusa have been amply discussed. The marked morphological similarities among some species hamper the reliable identification of specimens and may often lead to their incorrect taxonomic classification on the sole basis of morphological traits. Phenotypic variation was observed among populations assigned to ...
Zupan Andrej - - 2013
Abstract Background: The Slovenian territory is geographically positioned between the Alps, the Adriatic Sea, the Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway for different populations over different periods of time. Turbulent historic events and the diverse geography of the region have produced a ...
Katsaloulis Panayotis - - 2013
Statistical properties of eleven Y chromosome Short Tandem Repeat (STR) markers were analyzed (DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385) in a Greek population sample. The 200 subjects where distributed across Greece, from various Peripheries. 182 distinct haplotypes were found. To validate our results gene ...
Krejcíková Jana J Department of Botany, Faculty of Science, Charles University in Prague, Benátská 2, Prague, Czech - - 2013
Genome duplication is widely acknowledged as a major force in the evolution of angiosperms, although the incidence of polyploidy in different floras may differ dramatically. The Greater Cape Floristic Region of southern Africa is one of the world's biodiversity hotspots and is considered depauperate in polyploids. To test this assumption, ...
Balen Rafael Ernesto - - 2013
Two populations of Hollandichthys multifasciatus from headwaters of adjacent river coastal basins in Paraná state, southern Brazil, were cytogenetically studied in order to evaluate intraspecific divergences. Both populations presented 2n = 50 chromosomes, divided into 14m + 18sm + 18st in the sample from Antonina and 14m + 20sm + ...
Hackett Christine A - - 2013
New sequencing and genotyping technologies have enabled researchers to generate high density SNP genotype data for mapping populations. In polyploid species, SNP data usually contain a new type of information, the allele dosage, which is not used by current methodologies for linkage analysis and QTL mapping. Here we extend existing ...
Garrick Dorian J - - 2013
Genomic prediction exploits historical genotypic and phenotypic data to predict performance on selection candidates based only on their genotypes. It achieves this by a process known as training that derives the values of all the chromosome fragments that can be characterized by regressing the historical phenotypes on some or all ...
Labuda Damian - - 2013
The genetic diversity within an 11 kb segment of the MTMR8 gene in a sample of 111 sub-Saharan and 49 non-African X chromosomes was investigated to assess the early evolutionary history of sub-Saharan Africans and the out-of-Africa expansion. The analyses revealed a complex genetic structure of the Africans that contributed ...
Congiu Alessandra - - 2012
This study presents an overview of online databases for mtDNA and Y chromosome polymorphisms in human populations. In order to provide readers with information which may help optimize their use, we focus on: (i) type, quantity and source of data contained; (ii) possibilities of downloading and uploading; (iii) availability of ...
Shetty Priya B - - 2012
Genetic variants in 296 genes in regions identified through admixture mapping of hypertension, BMI, and lipids were assessed for association with hypertension, blood pressure (BP), BMI, and high-density lipoprotein cholesterol (HDL-C). This study identified coding SNPs identified from HapMap2 data that were located in genes on chromosomes 5, 6, 8, ...
Debono Rebecca - - 2012
The Disrupted-in-Schizophrenia 1 (DISC) locus on human chromosome 1 was identified as a consequence of its involvement in a balanced translocation (1;11)(q42.1;q14.3) segregating with major psychiatric disorders in a Scottish family. Recently a comprehensive meta-analysis of genome-wide association scan data found no evidence that common variants of DISC1 (1q42.1) are ...
Heckman M G MG Biostatistics Unit, Mayo Clinic, Jacksonville, FL 32224, USA. - - 2013
Ischaemic stroke shares common traditional risk factors with coronary artery disease (CAD) and myocardial infarction (MI). This study evaluated whether genetic risk factors for CAD and MI also affect susceptibility to ischaemic stroke in Caucasians and African Americans. Included in the study were a Caucasian series (713 ischaemic stroke patients, ...
Krzewska M - - 2012
Quantitative trait loci (QTLs) associated with androgenic responsiveness in triticale were analyzed using a population of 90 DH lines derived from the F1 cross between inbred line 'Saka 3006' and cv. 'Modus', which was used in a number of earlier studies on molecular mapping in this crop. Using Windows QTL ...
Brisbin Abra - - 2012
Abstract Identifying ancestry along each chromosome in admixed individuals provides a wealth of information for understanding the population genetic history of admixture events and is valuable for admixture mapping and identifying recent targets of selection. We present PCAdmix (available at https://sites.google.com/site/pcadmix/home ), a Principal Components-based algorithm for determining ancestry along ...
Maarse Wies - - 2012
Oral clefts-comprising cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate (CP)-are being diagnosed prenatally more frequently. Consequently, the need for accurate information on the risk of associated anomalies and chromosomal defects to aid in prenatal counselling is rising. This systematic review was conducted to investigate the ...
Wingren Carl Johan - - 2012
ABSTRACT: Previously, chromosomal anomalies, and to a lesser extent, other congenital anomalies have been associated with an increased risk of celiac disease (CD). We investigated these associations using a systematic approach. We identified all singleton children (792,401) born in Sweden between 1987 and 1993, and obtained cases of CD using ...
Fortes Marina R S - - 2012
Bull fertility is an important target for genetic improvement and early prediction using genetic markers is therefore a goal for livestock breeding. We performed genome-wide association studies to identify genes associated with fertility traits measured in young bulls. Data from 1,118 Brahman bulls were collected for 6 traits: blood hormone ...
Luo Yanli - - 2012
In this study, we investigated p53 and p16 deletions, and chromosome 9 and 17 amplifications in pancreatic ductal adenocarcinoma (PDAC), and further analyzed their associations with clinical characteristics and prognosis of PDAC. A total of 32 PDAC and 23 peritumoral tissues were collected. Molecular abnormalities of CEP9/p16 and CEP17/p53 were ...
Zhang Dongfeng - - 2012
Elevated pulse pressure (PP) is associated with cardiovascular disorders and mortality in various populations. The genetic influence on PP has been confirmed by heritability estimates using related individuals. Recently, efforts have been made by mapping genes that are linked to the phenotype. We report the results of our gene mapping ...
Jancic Dubravka D Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA 52242, - - 2012
We report the results of a high-density attempted suicide association study of the X chromosome, which genotyped 23,141 SNPs on 983 attempters and 1143 non-attempters and generated modest evidence for association for SH3KBP1 (P=1.07×10(-4)) and GRIA3 (P=4.01×10(-4)). These findings highlight the need for larger sample sets and meta-analytic approaches.
Voorham Quirinus J M - - 2012
Flat adenomas are a subgroup of colorectal adenomas that have been associated with a more aggressive clinical behavior compared with their polypoid counterparts. Here, we aimed to compare one of the molecular changes most explicitly associated with adenoma to carcinoma progression, that is, chromosomal instability, between flat and polypoid colorectal ...
Vogel Timothy W - - 2012
Giant occipitoparietal encephaloceles are rare forms of neurodevelopmental defects whose etiologies remain uncertain. Their occurrence can lead to variable neurological outcomes depending on the extent of cerebral cortex involved and the ability to repair the defect. In addition, encephaloceles may be associated with various genetic syndromes and familial inheritance. Here, ...
Upadhyaya Hari D - - 2012
Sorghum is a potential energy crop thanks to its high biomass productivity and low input. Biomass yield in sorghum is defined by height and maturity. To develop molecular breeding tools for genetic improvement of these two traits, we have identified simple sequence repeat markers linked to height and maturity using ...
Peters S O - - 2012
Data from developing Brangus heifers (3/8 Brahman-Bos indicus x 5/8 Angus- Bos taurus; n ≈ 802 from 67 sires) registered with International Brangus Breeders Association were analyzed to detect QTL associated with growth traits and ultrasound measures of carcass traits. Genotypes were from BovineSNP50 (Infinium BeadChip, Illumina, San Diego, CA; ...
Clément Y - - 2012
The gabra5 gene is associated with pharmacological properties (myorelaxant, amnesic, anxiolytic) of benzodiazepines. It is tightly located (0.5 cM) close to the pink-eyed dilution (p) locus which encodes for fur color on mouse chromosome 7. We tested the putative role of the gabra5 gene in pharmacological properties of the full ...
Vargas Hilda - - 2012
A 12 year-old girl presented with cognitive disability and dysmorphic features. Chromosome microarray analysis revealed a de novo, approximately 4.5 Mb terminal deletion of the short arm of chromosome 12 at 12p13.33 region: chr12: 100712-4607067. At 13 years this patient developed psychotic manifestations and was admitted to a psychiatric department ...
Kyriazoglou Anastasios I - - 2012
Extraskeletal osteosarcomas are rare tumors with neoplastic cells synthesizing bone, usually associated with poor prognosis. We present the case of a 40-year-old man with an extraskeletal osteosarcoma that was treated by surgery and adjuvant radiotherapy. Thirteen years after the diagnosis, he remains disease-free, without any recurrences or metastases. Histopathological analysis ...
Munro A F - - 2012
Duplication of the centromeric region of chromosome 17 (Ch17CEP) is associated with sensitivity to anthracyclines. An explanation may be chromosome instability (CIN); a frequent event in solid tumours associated with poor outcome. The predictive value of CIN seems to be drug dependent and CIN has been associated with both sensitivity ...
Halgren Christina - - 2012
Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes 12 and 18, with borderline IQ, developmental and behavioral ...
Liao Can - - 2012
We present three foetuses with Dandy-Walker malformation, intra-uterine growth restriction and multiple congenital abnormalities, who were studied by array-based comparative genomic hybridization and revealed a novel locus on chromosome 7p21.3. The association of pure chromosome 7p aberrations with Dandy-Walker malformation has rarely been reported. The present study suggests that the ...
Dupuis M C - - 2012
We used the data from a recently performed genome-wide association study using the Illumina Equine SNP50 beadchip for the detection of copy number variants (CNVs) and examined their association with recurrent laryngeal neuropathy (RLN), an important equine upper airway disease compromising performance. A total of 2797 CNVs were detected for ...
Abdel-Rahman Mohamed H - - 2012
The aim of the study was to investigate the molecular genetics of uveal melanoma (UM) metastases and correlate it with disease progression. Twelve pathologically confirmed UM metastases from 11 patients were included. Molecular genetic alterations in chromosomes 3 (including the BAP1 region), 8q, 6p, and 1p were investigated by microsatellite ...
Masonbrink Rick E - - 2012
In this study, four distinct minichromosomes derived from the maize B chromosome, were increased in copy number using the B chromosome's accumulation mechanism, namely nondisjunction at the second pollen mitosis and preferential fertilization of the egg. These minichromosomes provide the unique opportunity to examine the behavior of many copies of ...
van Hulzen K J E - - 2012
Heritability of susceptibility to Johne's disease in cattle has been shown to vary from 0.041 to 0.159. Although the presence of genetic variation involved in susceptibility to Johne's disease has been demonstrated, the understanding of genes contributing to the genetic variance is far from complete. The objective of this study ...
Kulwal Pawan - - 2012
Association mapping identified quantitative trait loci (QTLs) and the markers linked to pre-harvest sprouting (PHS) resistance in an elite association mapping panel of white winter wheat comprising 198 genotypes. A total of 1,166 marker loci including DArT and SSR markers representing all 21 chromosomes of wheat were used in the ...
Li Rui - - 2012
Androgenetic alopecia (AGA) is a highly heritable condition and the most common form of hair loss in humans. Susceptibility loci have been described on the X chromosome and chromosome 20, but these loci explain a minority of its heritable variance. We conducted a large-scale meta-analysis of seven genome-wide association studies ...
Yu Long-Xi - - 2012
The evolution of a new race of stem rust, generally referred to as Ug99, threatens global wheat production because it can overcome widely deployed resistance genes that had been effective for many years. To identify loci conferring resistance to Ug99 in wheat, a genome-wide association study was conducted using 232 ...
Ikram M Arfan MA Department of Epidemiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands. - - 2012
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations ...
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