Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “common variation”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 937 records · Page 52Linked to original sources
PubMed2006

Genetic variations and normal fetal growth.

Size at birth is said to be a highly heritable trait, with an estimated 30-70% of the variability a result of genetics. Data from family studies may be confounded, however, by potential interactions between fetal genes and the maternal uterine environment. Overall, the maternal environment tends to restrain fetal growth, and this is most evident in first pregnancies. Restraint of fetal growth appears to be inherited through the maternal line. Potential genetic candidates include the mitochondrial DNA 16189 variant, and common variants of exclusively maternally expressed genes, such as H19, which have been associated with size at birth. Maternal blood glucose levels and blood pressure are also correlated with size at birth, but the degree to which these changes relate to genetic variation in the mother is unclear. Elegant studies in mouse knockout models and rare genetic variants in humans have highlighted the importance of insulin-like growth factor I (IGF-I), IGF-II, insulin and their respective receptors in determining fetal growth. However, data linking common variation in the genes that regulate these proteins and receptors with size at birth are few and inconsistent. Interestingly, common variation in the insulin gene (INS) variable number tandem repeats, which regulates the transcription of insulin and IGF-II, has been associated with size at birth, largely in second and subsequent pregnancies, where maternal restraint is least evident. This suggests that fetal genes, and in particular paternally expressed genes, may have significant effects on fetal growth during pregnancies where maternal restraint of fetal growth is less evident.

Animals↗
PubMed1996

Analysis of genetic differentiation of host races of the common cuckoo Cuculus canorus using mitochondrial and microsatellite DNA variation.

It has long been argued that populations of the parasitic common cuckoo Cuculus canorus consist of sympatric host-specific female races, each of which lays eggs that match, to varying degrees, those of their chosen hosts. We tested this hypothesis by comparing rapidly evolving DNA markers among the cuckoo chicks reared by the three most common hosts in the United Kingdom. Comparing cuckoos from different hosts, we found no significant differences in the number of repeats in the control region of the mtDNA nor in the allele frequencies of three microsatellite loci. Given that cuckoos parasitizing the three different hosts do lay different eggs, these results suggest that either: (i) egg-colour variation in cuckoos is facultative, which is unlikely; (ii) gene flow between races occurs because female cuckoos sporadically successfully parasitize alternative hosts; or (iii) the presumably neutral markers in this study have not have not tracked the rapid and/or recent evolution of host races in this species. Studies of the laying and mating patterns of female cuckoos in marked populations in the wild will help evaluate which of these interpretations is most likely.

Alleles↗
PubMed1980

[Phenoperidine and operative common bile duct pressure (author's transl)].

The pressure variations registered in the common bile duct, after injection of phenoperidine (0,033 mg/kg) during sixteen anaesthesias performed for cholecystectomy, showed no significant modifications. In one case a spasm of the common bile duct was observed before analgesic administration which induced no change in the biliary pressure, an inhalation of amyl nitrite made it possible to affirm the functional character of the anomaly. The analgesic anaesthesia using phenoperidine, method chosen for high-risk patients, is compatible with bile duct surgery without risk of bringing about unnecessary surgical procedures.

Adult↗
PubMed1990

Plasma melatonin exhibits a diurnal secretion in the common marmoset (Callithrix jacchus): relationship to the rest-activity cycle.

The secretion of plasma melatonin exhibits a diurnal variation in the common marmoset (Callithrix jacchus jacchus) (n = 12) with mean values of 125.8 fmol/ml during darkness and below assay sensitivity (mean 70.5 fmol/ml) during the light period. Both melatonin secretion and the rest activity cycle appeared to be phase advanced with relation to the light dark cycle which is consistent with an endogenous circadian period (tau) of less than 24 h in this species.

Activity Cycles↗
PubMed1989

Genetic studies of low-abundance human plasma proteins. X. Coagulation factor XIIIB variants in blacks.

Human coagulation factor XIIIV (F XIIIB) demonstrates genetically determined-structural variation with three common and several rare alleles. Population genetics studies reveal enormous intra and interracial group variation. In the present study, using isoelectric focusing and immunoblotting, we have determined for the first time the polymorphic occurrence of F XIIIB allelic forms in a native African population, namely Nigerian Blacks. In addition, F XIIIB data have been extended to various US Black populations. The characteristic feature of the black gene pool is the relative high frequency of the F XIIIB*2 allele, the highest being in Nigerians (0.723). The F XIIIB*6 allele is present at a polymorphic level in both the US and Nigerian Blacks and appears to be a unique black allele marker. The present technique has demonstrated several new alleles designated: F XIIIB*18, FXIIIB*22, F XIIIB*23 and F XIIIB*24. Among these new alleles the F XIIIB*23 exists at polymorphic level in both the US and Nigerian Blacks and is another unique Black allele marker of potential significance in population genetics studies.

Alleles↗
PubMed2004

Inter- and intra-specific variation in the ontogeny of the hominoid facial skeleton: testing assumptions of ontogenetic variability.

In this paper we use geometric morphometric techniques to test two assumptions that are commonly made about variations in facial ontogeny: closely related species, or members of the same species, will share a common early post-natal ontogeny; and closely related species, or members of the same species, will share a common ontogenetic scaling trajectory. To test these assumptions we use four species of hominines: Homo sapiens, Gorilla gorilla, Pan troglodytes and Pan paniscus. The first assumption is falsified, both inter- and intra-specifically, using discriminant analysis with crossvalidation of subadults prior to the onset of the eruption of the permanent dentition. The second assumption only holds true for inter-specific comparisons of ontogenetic scaling trajectories, while assumptions of variation in intra-specific scaling trajectories are falsified with these data.

Adolescent↗
PubMed1994

Length variation in mitochondrial DNA of the minnow Cyprinella spiloptera.

Length differences in animal mitochondrial DNA (mtDNA) are common, frequently due to variation in copy number of direct tandem duplications. While such duplications appear to form without great difficulty in some taxonomic groups, they appear to be relatively short-lived, as typical duplication products are geographically restricted within species and infrequently shared among species. To better understand such length variation, we have studied a tandem and direct duplication of approximately 260 bp in the control region of the cyprinid fish, Cyprinella spiloptera. Restriction site analysis of 38 individuals was used to characterize population structure and the distribution of variation in repeat copy number. This revealed two length variants, including individuals with two or three copies of the repeat, and little geographic structure among populations. No standard length (single copy) genomes were found and heteroplasmy, a common feature of length variation in other taxa, was absent. Nucleotide sequence of tandem duplications and flanking regions localized duplication junctions in the phenylalanine tRNA and near the origin of replication. The locations of these junctions and the stability of folded repeat copies support the hypothesized importance of secondary structures in models of duplication formation.

Animals↗
PubMed2006

Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.

Variations in the gene encoding the novel protein dysbindin-1 (DTNBP1) are among the most commonly reported genetic variations associated with schizophrenia. Recent studies show that those variations are also associated with cognitive functioning in carriers with and without psychiatric diagnoses, suggesting a general role for dysbindin-1 in cognition. Such a role could stem from the protein's known ability to affect neuronal glutamate release. How dysbindin-1 might affect glutamate release nevertheless remains unknown without the discovery of the protein's neuronal binding partners and its subcellular locus of action. We demonstrate here that snapin is a binding partner of dysbindin-1 in vitro and in the brain. Tissue fractionation of whole mouse brains and human hippocampal formations revealed that both dysbindin-1 and snapin are concentrated in tissue enriched in synaptic vesicle membranes and less commonly in postsynaptic densities. It is not detected in presynaptic tissue fractions lacking synaptic vesicles. Consistent with that finding, immunoelectron microscopy showed that dysbindin-1 is located in (i) synaptic vesicles of axospinous terminals in the dentate gyrus inner molecular layer and CA1 stratum radiatum and in (ii) postsynaptic densities and microtubules of dentate hilus neurons and CA1 pyramidal cells. The labeled synapses are often asymmetric with thick postsynaptic densities suggestive of glutamatergic synapses, which are likely to be derived from dentate mossy cells and CA3 pyramidal cells. The function of dysbindin-1 in presynaptic, postsynaptic and microtubule locations may all be related to known functions of snapin.

Aged↗
PubMed1991

Antimicrobial proteins in human unstimulated whole saliva in relation to each other, and to measures of health status, dental plaque accumulation and composition.

Saliva antimicrobial proteins may interact in a common system to influence the oral ecology. Clinical studies of antimicrobial protein action thus may require a multiple-protein approach. Multivariate statistical methods have been used to describe possible patterns of interaction for lysozyme, lactoferrin, salivary peroxidase and secretory IgA in stimulated parotid saliva. However, oral microbes are most likely to encounter antimicrobial proteins in mixed resting saliva. Relationships among levels of lysozyme, lactoferrin, salivary peroxidase, and secretory IgA therefore were investigated in whole saliva from 216 subjects, and an attempt made to relate interperson variation in those proteins to differences in health and status, and dental plaque accumulation and composition. All proteins were significantly (alpha = 0.05) correlated with each other (r = 0.38-0.52, p less than 0.001). There was only one axis of common variation among proteins, and that axis was significantly correlated (p less than 0.001) with total protein (r = 0.84) and flow rate (r = -0.56). That pattern deviated from the previous finding that proteins of acinar origin tended to vary independently from proteins of ductal origin in stimulated parotid saliva. The difference between parotid and whole saliva may reflect constitutive secretion of all proteins at low levels of stimulation. Common variation of unstimulated saliva proteins suggests that antimicrobial actions can be compared in subjects at population extremes. There were no significant associations between antimicrobial proteins in whole saliva and measures of health status or plaque accumulation. However, the proportions of Streptococcus sanguis were significantly correlated with lysozyme (r = -0.26), lactoferrin (r = -0.34), peroxidase (r = -0.30), total protein (r = -0.37), flow rate (r = 0.24) and principal-components scores (r = -0.33) in a subset of subjects (n = 85) where commercial biochemical tests were used to supplement species identification by colony morphology. Those findings may indicate that saliva antimicrobial proteins can affect the composition of dental plaque.

Adolescent↗
PubMed2001

[The study of genetic variability of mtDNA in common laboratory inbred strains of mice].

The genetic variation of mtDNA among 7 common laboratory inbred strains of mice was analyzed by PCR-RFLP and PCR-SSCP techniques. D-loop, tRNA(Met + Glu + Ile) and ND3 fragments of mtDNA from the mices showed no variation in 46 endonuclease sites; Deeply analyzed by PCR-SSCP, the D-loop 5' fragment and 3' fragment of mtDNA from these mice also show no genetic variation. Because of maternal mode of inheritance of mtDNA, the results indicate that only one female lineage contributed to the formation of all these common inbred strains of mice.

Animals↗
PubMed1995

Genetic characterization of geographic populations using morphometrical traits in Drosophila melanogaster: isogroups versus isofemale lines.

Studies of short or medium range geographic variations play an increasing role in ecological genetics, and sensitive techniques are required to detect them. In this respect, two sampling techniques were compared in D. melanogaster. The biological data were provided by the analysis of four natural populations from the same geographic area, Spain (one) and Southern France (three), for four morphometrical traits: abdomen and thoracic pigmentation, and wing and thorax lengths. Traits were measured on wild living females and on their progeny reared in the laboratory at 25 degrees C. For progeny analyses, two techniques were compared: the usual isofemale line technique, sib families issued from a single female, and a new isogroup technique, the progeny produced by a group of 20 wild-collected parents. Large phenotypic variations were observed in wild living flies, corresponding to the unstability of natural environmental conditions during their development. Among laboratory grown flies, variations were much smaller. Between isogroups, differences were small, due to sampling error and some common environment effects. Variations between lines were much greater, thus demonstrating a strong genetic component. When different populations have to be compared, the isogroup technique should be preferred since, for the same amount of work, the lesser variability between groups provides a more precise characterization of the population means.

Animals↗
PubMed1999

Quantifying a relationship between tactile and vibration sensitivity of the human foot with plantar pressure distributions during gait.

OBJECTIVE: To quantify the relationship between the tactile and vibration sensitivity thresholds of the sole of the human foot with plantar pressure distribution while walking and running. DESIGN: Cross-sectional study performed in a laboratory setting. BACKGROUND: Results of previous studies of human locomotion have identified potentially dangerous variations in locomotion patterns. A common approach to manage these variations is with the use of orthotics. Individual responses to differences in the construction and shape of orthotics cannot be fully explained with a mechanical model. It has been suggested that sensory feedback from the receptors in the feet may play an important role in regulating gait patterns. METHODS: Fifteen subjects were recruited for this study. Pressure (tactile) and vibration thresholds were determined from each subject. Plantar pressure distributions were obtained while walking at 1.5 m s(-1) and running at 3.5 m s(-1). Sensitivity measurements were correlated to pressure measurements under the foot. RESULTS: Significant negative correlation exists between the vibration threshold of the hallux at 125 Hz and peak pressures under the hallux while walking (P=0.02) and running (P=0.01). A significant negative relationship was shown between the foot mean vibration threshold at 125 Hz with peak force during running (P=0.038). A similar trend was seen at the heel, lateral arch and first metatarsal head. CONCLUSIONS: The results from this study support recent hypotheses that suggest that the body can detect and respond to external stimuli. The relationship between plantar sensitivity and peak pressures at the hallux, and the relationship between sensitivity to higher frequency vibrations and peak force during running suggests that neurological feedback should be incorporated in to any model that attempts to explain gait patterns. RELEVANCE: It is suggested that the body is able to detect small biomechanical changes in the external environment and alter gait patterns as a defensive mechanism. Understanding the relationship between neural feedback and gait patterns will help in the development of criteria for the proper application of inserts, and the prevention of lower extremity injuries.

Adult↗
PubMed1999

Emerging antimicrobial resistance in the surgical compromised host.

Improvements in the treatment of compromised patients have resulted in their prolonged survival in a debilitated state. Patients have repeated courses of antibiotics and become colonised with multiresistant pathogens during a stay in the intensive care unit. Surgical wound infections can then be very difficult to treat. Methicillin-resistant Staphylococcus aureus is now common although wide variations in prevalence exist between countries and regions. Klebsiella spp with multiple resistance is a common cause of septicemia and can be associated with cephalosporin use. Acinetobacter spp and vancomycin-resistant enterococci can cause infections resistant to all readily available antibiotics. The prevalence of infection with each of these pathogens is increasing. Control measures should include hand washing, universal precautions for infection control, source isolation, restrictive antibiotic policy and antibiotic rotation. Although new agents currently in trials may be effective in the long term, the future for antibiotic treatment or prophylaxis of surgical infections is in doubt.

Anti-Bacterial Agents↗
PubMed2006

Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease.

The electron transport chain enzyme complex I may play a role in Parkinson's disease (PD) pathogenesis. Association studies considering whether or not complex I-relevant gene polymorphisms contribute to PD risk are discordant. We evaluated four complex I-relevant gene polymorphisms alternatively reported to associate and not associate with PD (tRNA(Gln) T4336C, ND1 T4216C, ND2 G5460A, and the NDUFV2 exon 2 C182T transition). Our study included 111 PD subjects and 106 controls in central Virginia. Individuals with at least one copy of the NDUFV2 182T allele were more likely to report a PD family history than non-carriers, but aside from this no positive associations were found. Indeed, the tRNA(Gln) 4336C variant occurred more frequently in controls. We also observed that individuals in both groups often carried more than one of the assayed polymorphisms, and for the first time show bigenomic polymorphic variation (between nuclear and mtDNA complex I subunit genes) commonly occurs within individuals. In an exploratory sub-analysis, more control than case women had an ND1 4216C, NDUFV2 homozygous 182C compound genotype. Complex I compound genotype variation commonly occurs and may explain why particular complex I gene polymorphisms associate with PD in some populations but not others.

Adult↗
PubMed2004

Low genetic diversity among isolates of the nematode-trapping fungus Duddingtonia flagrans: evidence for recent worldwide dispersion from a single common ancestor.

The genetic variation of Duddingtonia flagrans, which has become a promising biocontrol agent of animal parasitic nematodes, was investigated in a worldwide collection of 22 isolates. We analysed the sequence variation in four nuclear genes, tubA (beta-tubulin), CMD1 (calmodulin), EF1alpha (translation elongation factor 1alpha), and PII (extracellular serine protease). 1428 aligned base pairs (bp) were analysed from the four genes, including 709 bp of introns. In addition, the variations in three anonymous genomic regions comprising 1155 bp were examined. Three single nucleotide polymorphisms (SNPs) were detected in the seven loci, none of them in the protein encoding genes. The genetic variation was significantly higher in the nematode-trapping fungus Arthrobotrys oligospora, the closest evolutionary relative to D. flagrans. Analysis of 12 isolates of A. oligospora revealed 30 SNPs in tubA, CMD1, EF1alpha and PII. The genetic variation in the isolates of D. flagrans was further examined using AFLP analysis. Five primer combinations were used to detect 159 bands, of which 94 (59.1%) were polymorphic. A neighbour-joining tree based on the AFLP data showed no clear association between genotype and geographical origin. Furthermore, the AFLP data suggest that D. flagrans is mainly clonal and no recombination could be detected, not even within the same country. The low genetic variation in D. flagrans suggests that this fungus has recently diverged from a single progenitor. Based on estimations of mutation rates, it was calculated that this most recent common ancestor lived about 16,000-23,000 years ago.

Ascomycota↗
PubMed2002

Inferring the history of speciation from multilocus DNA sequence data: the case of Drosophila pseudoobscura and close relatives.

The divergence of Drosophila pseudoobscura from its close relatives, D. persimilis and D. pseudoobscura bogotana, was examined using the pattern of DNA sequence variation in a common set of 50 inbred lines at 11 loci from diverse locations in the genome. Drosophila pseudoobscura and D. persimilis show a marked excess of low-frequency variation across loci, consistent with a model of recent population expansion in both species. The different loci vary considerably, both in polymorphism levels and in the levels of polymorphisms that are shared by different species pairs. A major question we address is whether these patterns of shared variation are best explained by gene flow or by persistence since common ancestry. A new test of gene flow, based on patterns of linkage disequilibrium, is developed. The results from these, and other tests, support a model in which D. pseudoobscura and D. persimilis have exchanged genes at some loci. However, the pattern of variation suggests that most gene flow, although occurring after speciation began, was not recent. There is less evidence of gene flow between D. pseudoobscura and D. p. bogotana. The results are compared with recent work on the genomic locations of genes that contribute to reproductive isolation between D. pseudoobscura and D. persimilis. We show that there is a good correspondence between the genomic regions associated with reproductive isolation and the regions that show little or no evidence of gene flow.

Animals↗
PubMed1985

Interrelationships of locus of control content dimensions and hopelessness.

Items from three locus of control (LOC) tests and the Beck Hopelessness Scale were administered to 197 college students. Factor analyses produced multiple factors for each LOC test, but the Beck scale proved to be unidimensional. Factor scales were constructed for each test, and scores were factor analyzed to discover common content. Each LOC test contained a salient dimension that described belief in luck, chance, or fate, and corresponding scales were well correlated. Internal control was the second common theme, with variations according to whether control was attributed to oneself or to people in general. The third common component expressed a personal helplessness or powerlessness. Each common factor was loaded by the Hopelessness Scale, which also correlated with all but one LOC factor scale.

Factor Analysis, Statistical↗