Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Admixture”

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 145 records · Page 8Linked to original sources

Deciphering the mosaic genome of sugarcane cultivars through polyploid admixture inference with AdmixPoly.

BACKGROUND: Characterizing population structure and admixture events between ancestral groups plays a key role in understanding the evolutionary history of species and crops. Most tools for inferring admixture have been developed for diploids and are not suitable for polyploids, in particular those with high and mixed ploidy such as Saccharum. RESULTS: Here we present AdmixPoly, an R-package designed to infer admixture in polyploid species both at the genome-wide scale and locally along chromosomes. We compare AdmixPoly with state-of-the-art methods using simulations, demonstrating its precision and computational efficiency. Notably, local admixture inference in complex scenarios, such as high ploidy levels, large numbers of ancestral groups and alleles per marker is enabled through efficient approximations of emission and transition probabilities within a hidden Markov model framework. We apply this approach to characterize the contributions of wild Saccharum species to the complex polyploid genome of modern sugarcane cultivars. A panel of wild and cultivated Saccharum accessions is genotyped for 80K genomic regions, each revealing approximately 50 read-scale haplotypes. CONCLUSIONS: The results reveal that most of the approximately 12 copies of each basic chromosome in modern cultivars are derived from the domesticated species Saccharum officinarum, with one to four copies typically contributed by distinct subgroups of the wild species Saccharum spontaneum. In addition, contributions from an unknown wild Saccharum group originating from the Pacific were identified in most cultivars. The conserved pattern of these introgressions suggests that they can be traced back to the early stages of sugarcane breeding approximately a century ago.

Saccharum↗

Genetic admixture in the late pleistocene.

The replacement hypothesis of modern human origins holds that the original population of modern humans expanded throughout the world, replacing existing archaic populations as it went. If this expanding population interbred with the peoples it replaced, then some archaic mitochondria might have been introduced into the early modern gene pool. Such mitochondria would be recognizable today because they should differ from other modern mitochondria at several times the number of sites that we are used to seeing in pairwise comparisons. In this paper we ask what can be inferred from the absence of these "divergent" mitochondria from modern samples. We show that if the effective number of females in our species has been large for the past 40,000 years, then the level of admixture must have been low. For example, if this effective number exceeded 1.6 million, then we can reject the hypothesis that more more than 2/1,000 of the mitochondria in the early modern population derived from admixture with archaic peoples. We argue elsewhere that regional continuity would be detectable in the fossil record only if the rate of admixture exceeded 76%. Here, we show that this level of admixture would require the effective female size of the human population to have been less than 1,777 for the past 40,000 years.

Animals↗

The use of nonmetric variation in estimating human population admixture: a test case with Brazilian blacks, whites, and mulattos.

Measurements in populations which serve as valid indicators of biological relationship should be proportional to genetic distance. In order to test the utility of discrete cranial traits for estimating genetic distances among populations, estimates of admixture are obtained for gene frequency data and nonmetric cranial data in São Paulo mulattos (M). The gene frequency data serve as a control that the three populations are related as stated: estimates of admixture are obtained by using São Paulo whites (W) and blacks (B) as parental populations and by estimating the parameter of admixture, m, in the model pM = (1 - m) pW + mpB (Elston, 1971) where the p's are either gene frequencies or nonmetric trait frequencies. A test of goodness of fit of the model provides a means of ascertaining whether or not the data fit this linear model. While the gene frequency data indicate distances among the three populations which are highly compatible with the linear model of admixture, the nonmetric data show significant deviations from the model. This implies that the frequencies of the nonmetric traits in the populations used in this analysis are not a linear function of genetic distance. This discourages the use of nonmetric traits in making quantitative conclusions about genetic relationships. It also suggests the need for investigation of the use of other skeletal characters for estimating genetic distance, as well as approaches for such investigations through the study of hybrid individuals.

Adult↗

Individual admixture estimates: disease associations and individual risk of diabetes and gallbladder disease among Mexican-Americans in Starr County, Texas.

The ethnic and geographic distributions of several common chronic diseases show distinct patterns that are consistent with the distribution of genes and genetic admixture. For example, diabetes and gallbladder disease occur most frequently among Amerindians, while those genetically admixed with them (such as Mexican-Americans) have intermediate rates, and lowest rates are found among Whites and Blacks. Because there will be heterogeneity from individual to individual in ancestral affinity within an admixed population, a method is developed for estimating each person's admixture probability. Results confirm that there is substantial heterogeneity of individual admixture among Mexican-Americans in Starr County, Texas, with a mean value indicating that 65% of genes in this population are Caucasian derived and 35% Amerindian derived. The individual estimates are shown to be unrelated to the probability of being diabetic and only marginally related to gallbladder disease, with those having the most Amerindian affinity being at increased risk. These results are a consequence of the independent assortment of loci and indicate that unless the markers employed are related (including linkage) to the disease of interest, the method will have limited utility. Individual admixture estimates will be useful, however, for examining aspects of population structure and will find increased utility for predicting disease and examining disease associations as more and more of the genome is represented by markers, a very probable prospect with the abundance of DNA polymorphism being identified by restriction enzymes.

Adolescent↗

Techniques for estimating genetic admixture and applications to the problem of the origin of the Icelanders and the Ashkenazi Jews.

A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of the effects of different assumptions about sources of error on the estimates. Admixture is then investigated for Icelanders and Ashkenazi Jews. Results indicate that the Icelanders have a large Norse contribution, and that the Jews may have a small to moderate contribution from the European gene pool. There are some indications that AB0 and G6PD give abnormal estimates of admixture compared to other loci, and that the Jewish gene pool may be derived from additional populations in addition to the populations considered.

ABO Blood-Group System↗

An admixture of 3 mg x kg(-1) of propofol and 3 mg x kg(-1) of thiopentone reduces pain on injection in pediatric anesthesia.

PURPOSE: To evaluate the incidence of pain on injection in children during anesthetic induction with a 3:1.2 volume admixture of 1% propofol and 2.5% thiopentone (P/T) compared to a 10:1 volume admixture of 1% propofol and 2% lidocaine (P/L). METHODS: After Ethics Committee approval and informed written parental consent, 127 children, aged one to ten years were studied and randomized into two groups; Group P/L received an induction with 5 mg x kg(-1) of 1% propofol and 1 mg x kg(-1) of lidocaine, Group P/T with 3 mg x kg(-1) of 1% propofol and 3 mg x kg(-1) of 2.5% thiopentone in a standardized fashion. A single, blinded observer scored pain behaviour defined as a motor response of the arm, a verbal complaint of pain, cry and/or one of three standardized facial expressions of pain. RESULTS: The incidence of pain was 14% in the P/T group, compared to 35% in the P/L group (chi(2)(1) = 7.5, P = 0.006). Motor response was the most frequent pain response in the P/L group (68%). CONCLUSION: The P/T admixture is a practical and efficacious alternative to P/L for reducing pain on induction in children. Further work to evaluate the optimum proportions and possible adverse effects of this admixture should be done.

Anesthetics, Intravenous↗

Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study designs, in which, cases and controls are matched by admixture, can be an appealing and a suitable alternative for genetic association studies in admixed populations. In this study, we applied this matching strategy when recruiting our African American participants in the Study of African American, Asthma, Genes and Environments. Group admixture in this cohort consists of 83% African ancestry and 17% European ancestry, which was consistent with reports from other studies. By carrying out several complementary analyses, our results show that there is a substructure in the cohort, but that the admixture distributions are almost identical in cases and controls, and also in cases only. We performed association tests for asthma-related traits with ancestry, and only found that FEV(1), a measure for baseline pulmonary function, was associated with ancestry after adjusting for socio-economic and environmental risk factors (P=0.01). We did not observe an excess of type I error rate in our association tests for ancestry informative markers and asthma-related phenotypes when ancestry was not adjusted in the analyses. Furthermore, using the association tests between genetic variants in a known asthma candidate gene, beta(2) adrenergic receptor (beta(2)AR) and DeltaFEF(25-75), an asthma-related phenotype, as an example, we demonstrated population stratification was not a confounder in our genetic association. Our present work demonstrates that admixture-matched case-control strategies can efficiently control population stratification confounding in admixed populations.

Adolescent↗

Biophysical inhibition of synthetic phospholipid-lung surfactant apoprotein admixtures by plasma proteins.

Biophysical activity and inhibition characteristics were studied for a series of synthetic surfactants composed of purified bovine lung surfactant proteins (SP)-B or -C combined with dipalmitoyl phosphatidylcholine (DPPC) and egg-phosphatidylglycerol (PG) in a weight ratio of 80:20:1 DPPC/PG/protein. Surfactant protein preparations included two isolates of SP-B, confirmed by amino terminal sequence analysis, three isolates of SP-C which were free of SP-B by ELISA and Western blot analysis, and two isolates containing both SP-B and -C. In oscillating bubble studies, mixtures of phospholipids with isolates containing pure SP-B or both SP-B and -C lowered surface tension to less than 1 mN/m within 2 min of pulsation at both 1.25 mg/ml and 2.5 mg/ml. Phospholipids combined with isolates of pure SP-C also had substantial activity, lowering surface tension to between 1 mN/m and 3 mN/m depending on the SP-C preparation used. The surface activity of synthetic phospholipid-apoprotein admixtures was decreased significantly by the plasma proteins albumin and fibrinogen, but with varying characteristics depending on the apoprotein preparation involved. At 1.25 mg/ml phospholipid, admixtures containing either isolate of SP-B were inhibited by 10 mg/ml of plasma proteins, as were those with one of the SP-C preparations. However, admixtures containing the two other pure SP-C preparations were not inhibited until 20-50 mg/ml of albumin or fibrinogen were present. The highest resistance to inhibition was shown by admixtures containing one of the apoprotein isolates having both SP-B and -C.(ABSTRACT TRUNCATED AT 250 WORDS)

1,2-Dipalmitoylphosphatidylcholine↗

Post-colonial human admixture and natural selection: disentangling signals in complex demographic contexts.

Natural selection and admixture are defining population genetic features of modern human populations, yet their interaction has only recently emerged as a major focus in human evolutionary genomics. While the influence of natural selection on population structure and trait diversity is well established, the ways in which selective pressures operate after admixture have historically received far less attention. In this review, we synthesise the latest progress in understanding post-admixture selection and highlight case studies that illustrate how novel environments, pathogen exposure, dietary shifts and socio-historical transformations have driven genomic adaptation. We conclude by identifying key gaps that remain in the field with the aim of motivating future research and facilitating new insights into how admixture and selection jointly shape human diversity.

Journal Article↗

Stability of admixture containing morphine sulfate, bupivacaine hydrochloride, and clonidine hydrochloride in an implantable infusion system.

Intrathecal infusion is often performed using drug combinations. This study was conducted to evaluate the stability of the admixture of morphine sulfate, bupivacaine hydrochloride, and clonidine hydrochloride when used in an implantable pump under simulated clinical use conditions. SynchroMed implantable pumps were filled with an admixture and incubated at 37 degrees C for a period of 90 days. Drug admixture stored in glass vials at 4 degrees C and at 37 degrees C served as controls. Samples which included pump reservoir and catheter delivered aliquots were collected every 30 days and analyzed for drug concentrations using a stability-indicating HPLC method. All drugs contained in the admixture were stable and the original concentrations remained greater than 96%. Over 90 days, and with the pump at the simulated body temperature of 37 degrees C, there were no evident heat catalyzed or device catalyzed reactions.

Analgesics↗

Admixture bloodwarming: a technique for rapid warming of erythrocytes.

Admixture of erythrocytes (packed red blood cells) with heated saline solutions may provide a faster and safer method of bloodwarming and infusion than is currently available. We developed and tested such a system for ease and efficacy. One-day-old aliquots of erythrocytes (6 to 10 C) were combined with equal amounts of saline that had been heated to a temperature of 50 or 60 C. After this rapid admixture, equilibrated temperatures were 29.1 and 34.0 C, respectively. The procedure also was performed using 35-day-old erythrocytes and 60-C saline. Samples were obtained for analysis immediately after admixture. There was no significant plasma hemoglobin elevation, indicating no significant hemolysis, in any sample at either temperature. Rapid admixture bloodwarming appears to be a technique in which erythrocytes and heated saline may be combined rapidly without causing significant hemolysis. However, further studies of red cell function and survival will be needed before this technique should be put into clinical practice.

Blood Transfusion↗

Leaching of concrete admixtures containing thiocyanate and resin acids.

There is an increasing concern about the emission of pollutants during the construction and lifetime of buildings. The leaching of concrete admixtures containing thiocyanate and resin acids was studied using standard leaching tests and chemical analysis. Ecotoxicological risk was assessed for each admixture. Thiocyanate leaching from concrete, with a chlorine-free accelerating admixture, was determined by ion chromatography. Of the total amount of thiocyanate added, 6-8% was emitted within 30 d. The thiocyanate diffusion curve indicates a fast dissolution process from the surface layer, followed by a slower continuous diffusion process. Thiocyanate exhibits both acute and chronic toxicity, which makes it of immediate environmental concern. Resin acid leaching from concrete test specimens containing an admixture of air-entraining agents with tall oil was determined by solid-phase extraction, methylation, and GC/MS. Of added resin acids, 10% was emitted over 143 d. The leaching curves for the resin acids indicate a continuous diffusion that is proportional to the square root of time and follows Fick's first law of diffusion. The chemical composition of the resin acids in the leachate demonstrates degradation and rearrangement of the resin acids during diffusion. Resin acids emitted from concrete are of environmental concern because they are persistent and have the ability to bioaccumulate in aquatic organisms.

Animals↗

The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysis.

The Vikings (or Norse) played a prominent role in Irish history but, despite this, their genetic legacy in Ireland, which may provide insights into the nature and scale of their immigration, is largely unexplored. Irish surnames, some of which are thought to have Norse roots, are paternally inherited in a similar manner to Y-chromosomes. The correspondence of Scandinavian patrilineal ancestry in a cohort of Irish men bearing surnames of putative Norse origin was examined using both slow mutating unique event polymorphisms and relatively rapidly changing short tandem repeat Y-chromosome markers. Irish and Scandinavian admixture proportions were explored for both systems using six different admixture estimators, allowing a parallel investigation of the impact of method and marker type in Y-chromosome admixture analysis. Admixture proportion estimates in the putative Norse surname group were highly consistent and detected little trace of Scandinavian ancestry. In addition, there is scant evidence of Scandinavian Y-chromosome introgression in a general Irish population sample. Although conclusions are largely dependent on the accurate identification of Norse surnames, the findings are consistent with a relatively small number of Norse settlers (and descendents) migrating to Ireland during the Viking period (ca. AD 800-1200) suggesting that Norse colonial settlements might have been largely composed of indigenous Irish. This observation adds to previous genetic studies that point to a flexible Viking settlement approach across North Atlantic Europe.

Chromosomes, Human, Y↗

Admixture mapping using interval transmission/disequilibrium tests.

Family-based studies of genetic association and linkage play a key role in mapping susceptibility genes of complex human diseases. Recent admixture between genetically differentiated populations can result in high levels of linkage disequilibrium even at far apart loci. This has been capitalized upon to reduce the burden of genotyping in a genomewide association scan. Here the authors describe an alternative approach for admixture mapping. The genome is divided into several non-overlapping intervals and the information of the markers in the same interval is integrated--the 'interval transmission/disequilibrium test' (ITDT). This method requires information in the form of the marker allele frequencies in the founding populations. However, computer simulations show that the performances of ITDT are hardly affected by imprecise allele-frequency information. Simulations also show that an interval-by-interval scan using ITDT perform much better than a conventional marker-by-marker scan using TDT, even under conditions where the admixture process occurred over many generations and the individuals in the admixed populations show considerable variation in admixture proportion. Hence the ITDT is a promising new genomewide scan method.

Chromosome Mapping↗

Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate.

Although it is well established that Hispanics generally have a mixed Native American, African, and European ancestry, the dynamics of admixture at the foundation of Hispanic populations is heterogeneous and poorly documented. Genetic analyses are potentially very informative for probing the early demographic history of these populations. Here we evaluate the genetic structure and admixture dynamics of a province in northwest Colombia (Antioquia), which prior analyses indicate was founded mostly by Spanish men and native women. We examined surname, Y chromosome, and mtDNA diversity in a geographically structured sample of the region and obtained admixture estimates with highly informative autosomal and X chromosome markers. We found evidence of reduced surname diversity and support for the introduction of several common surnames by single founders, consistent with the isolation of Antioquia after the colonial period. Y chromosome and mtDNA data indicate little population substructure among founder Antioquian municipalities. Interestingly, despite a nearly complete Native American mtDNA background, Antioquia has a markedly predominant European ancestry at the autosomal and X chromosome level, which suggests that, after foundation, continuing admixture with Spanish men (but not with native women) increased the European nuclear ancestry of Antioquia. This scenario is consistent with historical information and with results from population genetics theory.

Cell Nucleus↗

A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping.

Admixture mapping requires a genomewide panel of relatively evenly spaced markers that can distinguish the ancestral origins of chromosomal segments in admixed individuals. Through use of the results of the International HapMap Project and specific selection criteria, the current study has examined the ability of selected single-nucleotide polymorphisms (SNPs) to extract continental ancestry information in African American subjects and to explore parameters for admixture mapping. Genotyping of two linguistically diverse West African populations (Bini and Kanuri Nigerians, who are Niger-Congo [Bantu] and Nilo-Saharan speakers, respectively), European Americans, and African Americans validated a genomewide set of >4,000 SNP ancestry-informative markers with mean and median F(ST) values >0.59 and mean and median Fisher's information content >2.5. This set of SNPs extracted a larger amount of ancestry information in African Americans than previously reported SNP panels and provides nearly uniform coverage of the genome. Moreover, in the current study, simulations show that this more informative panel improves power for admixture mapping in African Americans when ethnicity risk ratios are modest. This is particularly important in the application of admixture mapping in complex genetic diseases for which only modest ethnicity risk ratios of relevant susceptibility genes are expected.

Black or African American↗

Estimating venous admixture using a physiological simulator.

Estimation of venous admixture in patients with impaired gas exchange allows monitoring of disease progression, efficacy of interventions and assessment of the optimal inspired oxygen fraction. A pulmonary artery catheter allows accurate measurement, although the associated risks preclude its use solely for estimation of venous admixture. Non-invasive methods require assumed values for physiological variables. Many of the required data (e.g. haemoglobin concentration (Hb), base excess, inspired oxygen fraction, arterial oxygen (PaO2) and carbon dioxide (PaCO2) tensions, temperature) are available routinely in the intensive therapy unit. We have compared a typical iso-shunt-style estimation of venous admixture (assuming Hb, base excess, PaCO2 and temperature), and estimation using the Nottingham physiology simulator (NPS), with measured data. When the arteriovenous oxygen content difference (CaO2-CvO2) was assumed to be 50 ml litre-1, the 95% limits of agreement (LA95%) for venous admixture using the NPS were -3.9 +/- 8.5% and using an iso-shunt-style calculation, -6.4 +/- 10.6%. CaO2-CvO2 was 41.1 ml litre-1 in the patients studied, consistent with previous studies in the critically ill. When CaO2-CvO2 was assumed to be 40 ml litre-1, LA95% values were 0.5 +/- 8.2% and -2.1 +/- 10.1%, respectively.

Carbon Dioxide↗

The use of commercially available lipid emulsions for the preparation of amphotericin B-lipid admixtures.

The use of Intralipid as a dilution medium for Fungizone, previously proposed by several groups to reduce the toxicity of amphotericin B, is limited by the instability of amphotericin B-lipid admixtures. We have shown that Fungizone-lipid admixtures with three different lipid emulsions can be stabilized by vigorous agitation. Unlike in preparations made by gentle shaking, in stable emulsions made by agitation for 18 h, most of the amphotericin B remains associated with the lipid phase for at least 1 month at 4 degrees C. The MICs of all the admixtures against various Candida spp. were similar to that of Fungizone and did not change following storage for at least 2 weeks at 4 degrees C. Furthermore, the toxicity of the admixtures, as evaluated by their haemolytic activity and amphotericin B-induced K+-leakage from human red blood cells, was much lower than that of Fungizone. Hence, amphotericin B-containing lipid emulsions made by extended agitation may be advantageous in clinical practice as they are efficient, stable, non-toxic and can be easily produced at low cost from commercially available ingredients approved for clinical use.

Amphotericin B↗