52 research outputs found
Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion
No full textLinkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion. While this strategy works well for rare diseases in which all disease alleles in the population today are clonal copies of some common ancestral allele, for common disease genes with substantial allelic heterogeneity, this approach is not predicted to work. In this paper, we describe the dynamics of linkage disequilibrium in populations which have not undergone a demographic expansion. In these populations, it is shown that genetic drift creates disequilibrium over time, while in expanded populations, the disequilibrium decays with time. We propose that common disease alleles might be more efficiently identified by drift mapping - linkage disequilibrium mapping in small, old populations of constant size where the disequilibrium is the result of genetic drift, not founder effect. Theoretical models, empirical data, and simulated population models are presented as evidence for the utility of this approach
Association between ovulation stimulation, in vitro fertilisation, and neural tube defects?
No full textAssessing bio-oil co-processing routes as CO<sub>2</sub> mitigation strategies in oil refineries
No full textThe oil industry needs to reduce CO2 emissions across the entire lifecycle of fossil fuels to meet environmental regulations and societal requirements and to sustain its business. With this goal in mind, this study aims to evaluate the CO2 mitigation potential of several bio-oil co-processing pathways in an oil refinery. Techno-economic analysis was conducted on different pathways and their greenhouse gas (GHG) mitigation potentials were compared. Thirteen pathways with different bio-oils, including vegetable oil (VO), fast pyrolysis oil (FPO), hydro-deoxygenated oil (HDO), catalytic pyrolysis oil (CPO), hydrothermal liquefaction oil (HTLO), and Fischer–Tropsch fuels, were analyzed. However, no single pathway could be presented as the best option. This would depend on the criteria used and the target of the co-processing route. The results obtained indicated that up to 15% of the fossil-fuel output in the refinery could be replaced by biofuel without major changes in the core activities of the refinery. The consequent reduction in CO2 emissions varied from 33% to 84% when compared with pure equivalent fossil fuels replaced (i.e., gasoline and diesel). Meanwhile, the production costs varied from 17 to 31€/GJ (i.e., 118–213$/bbleq). Co-processing with VO resulted in the lowest overall performance among the options that were evaluated while co-processing HTLO in the hydrotreatment unit and FPO in the fluid catalytic cracking unit showed the highest potential for CO2 avoidance (69% of refinery CO2 emissions) and reduction in CO2 emissions (84% compared to fossil fuel), respectively. The cost of CO2 emissions avoided for all of the assessed routes was in the range of €99–651 per tCO2.Energy and Industr
Prenatal Diagnosis of Cystic Fibrosis
No full textCystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. CF can be diagnosed by many methods including testing for blood immunoreactive trypsin, sweat chloride, transepithelial nasal potential difference, and molecular genetic testing
Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14
No full textWilson's disease (WD) is an autosomal recessive disorder resulting in copper accumulation notably in liver and brain tissue. Linkage of the WD locus (WND) to ESD at 13q14 was first shown by studies in families of Middle Eastern origin using the isozymic polymorphism of esterase D. Using RFLPs detected by the ESD cDNA we could not confirm this reported close linkage in an analysis of 17 WD families of northwest European origin. A tight linkage was detected, however, to the marker D13S12, located more distally at 13q21. No obligate cross-overs were detected in 63 gametes informative for this marker. Our data confirm an assignment of WND to 13q14-21. Its localization, however, seems to be more distal to ESD than previously reported. Although genetic heterogeneity cannot be excluded, the observed differences between the two populations are probably due to random variation
Pathogenesis of adult testicular germ cell tumors: A cytogenetic model
No full textIn essence, two models exist of the pathogenetic relationship between seminomas and nonseminomatous germ cell tumors (NSGCTs). In the first model, the histogenesis of seminomas is assumed to diverge from that of the other testicular germ cell tumors (TGCTs) at an early stage. The neoplastic pathway of seminomas and NSGCTs is different, with limited or no crossover. The second model suggests that seminomas and NSGCTs have a common origin with a single neoplastic pathway on which seminomas are an intermediate stage in development of NSGCTs. Our data on the cytogenetics and ploidy of seminomas, combined tumors, and NSGCTs lend support to the model of pathogenesis of seminomas and NSGCTs in which all TGCTs (with the possible exception of spermatocytic seminoma and infantile yolk sac tumor) have a single origin and neoplastic pathway, with seminomas representing an intermediate stage in development of NSGCT components, as opposed to the model in which seminomas and NSGCTs develop separately. The progression of TGCTs probably proceeds from high to lower numbers of chromosomes and is therefore accompanied by a net loss of chromosomal material. This decrease will be the end result of loss of specific chromosomes, gain of some other chromosomes (or part of chromosomes), and development of structural abnormalities
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