Interloci equilibrium between pairs of gene markers in the samples of different health rate in the population of Buryats of Chitinskaya Province was tested. The following methods were used: calculation of interloci correlation coefficients, chi 2-testing of the hypothesis of interloci equilibrium and the modification of principal components analysis on the basis of the matrix of Pearson's coefficients of contingency. In the groups of "extreme" health rate the tendency to increase in interloci disequilibrium was discovered. The reason for this effect is the increase in some phenotype combination frequencies that can be considered as markers of non-specific individual resistance in the environmental condition of the populations studied.
Time series have played a critical role in documenting how phenology responds to climate change. However, regressing phenological responses against climatic predictors involves the risk of finding potentially spurious climate-phenology relationships simply because both variables also change across years. Detrending by year is a way to address this issue. Additionally, detrending isolates interannual variation in phenology and climate, so that detrended climate-phenology relationships can represent statistical evidence of phenotypic plasticity. Using two flowering phenology time series from Colorado, USA and Greenland, we detrend flowering date and two climate predictors known to be important in these ecosystems: temperature and snowmelt date. In Colorado, all climate-phenology relationships persist after detrending. In Greenland, 75% of the temperature-phenology relationships disappear after detrending (three of four species). At both sites, the relationships that persist after detrending suggest that plasticity is a major component of sensitivity of flowering phenology to climate. Finally, simulations that created different strengths of correlations among year, climate, and phenology provide broader support for our two empirical case studies. This study highlights the utility of detrending to determine whether phenology is related to a climate variable in observational data sets. Applying this as a best practice will increase our understanding of phenological responses to climatic variation and change.
Longitudinal twin studies on long term conservation of individual metabolic phenotypes can help to explore the genetic and environmental basis in maintaining metabolic homeostasis and metabolic health. We performed a longitudinal twin study on 12 metabolic phenotypes from Danish twins followed up for 12 years and Chinese twins traced for 7 years. The study covered a relatively large sample of 502 pairs of Danish adult twins with a mean age at intake of 38 years and a total of 181 Chinese adult twin pairs with a mean baseline age of 39.5 years. Bivariate twin models were fitted to the longitudinal measurements taken at two time points (at baseline and follow-up) to estimate the genetic and environmental contributions to phenotype variation and correlation at and between the two time points. High genetic components in the regulation of intra-individual phenotype correlation or stability over time were estimated in both Danish (h2>0.75 except fasting blood glucose) and Chinese (h2>0.72 except blood pressure) twins; moderate to high genetic contribution to phenotype variation at the two time points were also estimated except for the low genetic regulation on glucose in Danish and on blood pressure in Chinese twins. Meanwhile the bivariate twin models estimated shared environmental contributions to the variance and covariance in fasting blood glucose in Danish twins, and in systolic and diastolic blood pressure, low and high density lipoprotein cholesterol in Chinese twins. Overall, our longitudinal twin study on long-term stability of metabolic phenotypes in Danish and Chinese twins identified a common pattern of high genetic control over phenotype conservation, and at the same time revealed population-specific patterns of genetic and common environmental regulation on the variance as well as covariance of glucose and blood pressure.
A new allele (he) of hooded white spotting is described. The typical homozygous phenotype is an almost or completely white rat. The almost white animals have variable coloured spots on the sides of the head, usually around or above the eyes or covering the ears. Superficially, the eyes are dark but careful examination shows that pupil glows a dull red in bright illumination in all or the majority of individuals.
Cancer of unknown primary (CUP) is diagnosed at the metastatic stage. We aimed to identify hidden primary cancers in CUP patients by comparison with cancers in family members. We take use of the fact that the cause of death in CUP patients is often coded as the cancer in the organ of fatal metastasis.
Forty-one thousand five hundred and twenty-three CUP patients were identified in the Swedish Family-Cancer Database, and relative risks (RRs) were calculated for cancer in offspring when family members were diagnosed with CUP and died of the cancer diagnosed in offspring.
The RR for lung cancer in offspring was 1.85 when a family member was diagnosed with CUP and died of lung cancer. Significant familial associations were found for seven other cancers. Many familial associations were also significant when offspring CUP patients died of the cancer diagnosed in family members.
The cause of death after CUP diagnosis frequently matched the cancer found in a family member, suggesting that the CUP had originated in that tissue. The metastasis had probably undergone a phenotypic change, complicating pathological tissue assignment. These novel data suggest that some CUP cases are phenotypically modified primary cancers rather than cancers of unknown primaries.
Genetic analysis of variation demands large numbers of individuals and even larger numbers of genotypes. The identification of alleles associated with Mendelian disorders has involved sample sizes of a thousand or more. Pervasive and common diseases that afflict human populations--cancer, heart disease, diabetes, neurodegeneration, addiction--are all polygenic and are even more demanding of large numbers. DeCode Genetics (http://www.decode.com) has harnessed the human resources of Iceland to unravel genetic and molecular causes of complex disease. The UK BioBank project (http://www.ukbiobank.ac.uk/) will incorporate 500,000 adult volunteers. The murine Collaborative Cross is the experimental equivalent of these human populations and will consist of a panel of approximately 1000 recombinant strains, expandable by intercrossing to much larger numbers of isogenic but heterozygous F(1)s. Massive projects of these types require efficient technologies. We have made enormous progress on the genotyping front, and it is now important to focus energy on devising ultrahigh-throughput methods to phenotype. Molecular phenotyping of the transcriptome has matured, and it is now possible to acquire hundreds of thousands of mRNA phenotypes at a cost matching those of SNPs. Proteomic and cell-based assays are also maturing rapidly. The acquisition of a personal genome along with a personal molecular phenome will provide an effective foundation for personalized medicine. Rodent models will be essential to test our ability to predict susceptibility and disease outcome using SNP data, molecular phenomes, and environmental exposures. These models will also be essential to test new treatments in a robust systems context that accounts for genetic variation.
The familial resemblance for immunoglobulin A, D, E, G, and M levels was investigated with family data collected in Canada and the U.S., entertaining both multifactorial and single gene hypotheses. Significant familial effects were found for each of the immunoglobulins, and there was significant support for a major gene hypothesis for IgA and IgD levels. Whereas there have been several reports suggesting a major gene determinant for IgE levels, including that from our own Canadian study, analysis of the U.S. sample suggested that a multifactorial component parsimoniously explained the observed familial resemblance.
Even though Stomatococcus mucilaginosus is considered indigenous oral-pharyngeal flora, cited literature and case reports indicate that it can be the cause of infectious conditions. Tested strains were isolated from blood, the oral region, and wound sources. The organism was routinely misidentified or not identified by conventional or commercial systems (Vitek, STAPH-Trac). Four antimicrobial diagnostic disks for example, bacitracin (0.04 units; Taxo A), furazolidone (100 micrograms), novobiocin (5 micrograms), and polymyxin B (300 units), were evaluated as possible addition to previously applied biochemical characteristics that differentiate between S. mucilaginosus, Micrococcus sp., and coagulase-negative staphylococci. Consistent antimicrobial susceptibility patterns among our isolates to the diagnostic disks produced applicable characteristics for discriminating S. mucilaginosus from similar microorganisms. However, therapeutic choices of antimicrobial agents should be guided by individual organism susceptibility test results because of variable, often resistant patterns to beta-lactams, aminoglycosides, macrolides, new fluoroquinolones, and sulfonamides.