Search results for "haplotype"

HLA genotype in patients with acquired haemophilia A

2010

Acquired haemophilia A (AH) is a rare bleeding disorder caused by an auto-antibody to coagulation factor VIII. It is associated with various autoimmune diseases, pregnancy, cancer or drug ingestion; however, in 50% of patients, no underlying disorder is found. In the present study, we investigated the association of HLA class I (A, B and Cw) and class II (DRB1 and DQB1) alleles with AH in a cohort of 57 patients. While no association with any class I allele was detected, a significantly higher frequency of DRB1*16 [odds ratio (OR) 10.2, 95%CI: 5.32-19.57, P < 0.0001] and DQB1*0502 (OR 2.2, 95%CI: 1.12-4.54, P < 0.05) was observed. In contrast, the frequency of DRB1*15 and DQB1*0602 alleles …

Role of genetic polymorphisms in myocardial infarction at young age

2010

Acute myocardial infarction (AMI) in young adult presents a typical pattern of risk factors, clinical, angiographic and prognostic characteristics. In the last years we demonstrated that hemorheological profile is altered in these patients in a persistent way and independently of the number of risk factors and of the extent of coronary lesions. Thus, the hyperviscosity syndrome following AMI could be considered an intrinsic characteristic of these patients. Consequently it is possible to hypothesise the presence of a genetic background at the origin of this predisposition. If this background is able to influence the risk of ischemic heart disease, this should be particularly evident in youn…

Regulatory Changes in Pterin and Carotenoid Genes Underlie Balanced Color Polymorphisms in the Wall Lizard

2018

ABSTRACTReptiles use pterin and carotenoid pigments to produce yellow, orange, and red colors. These conspicuous colors serve a diversity of signaling functions, but their molecular basis remains unresolved. Here, we show that the genomes of sympatric color morphs of the European common wall lizard, which differ in orange and yellow pigmentation and in their ecology and behavior, are virtually undifferentiated. Genetic differences are restricted to two small regulatory regions, near genes associated with pterin (SPR) and carotenoid metabolism (BCO2), demonstrating that a core gene in the housekeeping pathway of pterin biosynthesis has been co-opted for bright coloration in reptiles and indi…

Population differentiation of the European pond turtle (Emys orbicularis) in Poland inferred by the analysis of mitochondrial and microsatellite DNA …

2013

We investigated the genetic diversity of Polish populations of the European pond turtle (Emys orbicularis) using complete sequences of the mitochondrial cytochrome b gene and allelic variation at thirteen microsatellite loci. We collected data from 146 turtles from 28 locations covering most of the species’ range in Poland. Our results showed a low haplotype diversity and high levels of microsatellite diversity in all populations. We applied two Bayesian approaches using the multilocus data and determined relationships of mtDNA haplotypes by constructing a parsimony network. We observed relatively consistent results of the two Bayesian clustering methods and largely concordant differentiati…

Ancient mitochondrial DNA analyses of Iberian sturgeons

2009

Summary Today’s European sturgeons are relics of erstwhile widely distributed populations, diminished mainly by overfishing and habitat changes over the centuries. While extinct European populations in the Baltic and North seas have been identified as Acipenser oxyrhinchus or A. sturio, a clear species determination on the Iberian Peninsula is still lacking. Plans to conserve existing populations and to re-introduce extinct wild populations in European rivers will benefit from information of historic population/genotype composition. In this study, we used techniques involving ancient DNA as well as morphological comparisons based on bony scutes to identify twelve samples from five archaeolo…

Morphological and molecular analysis of the freshwater bivalve Anodonta anatina in Iran and Finland

2022

Duck mussel, Anodonta anatina is a habitat generalist inhabiting both lentic and lotic aquatic ecosystems. Due to high morphological similarity and phenotypic plasticity, A. anatina has sometimes been misidentified as A. cygnea. Here, morphological and molecular studies were conducted on Anodonta mussels inhabiting North Iran and Finland. The individuals were collected from Anzali Wetland, Tajan River (North Iran) and Jyväsjärvi Lake (Finland). The COI sequence analysis showed the existence of A. anatina in the sampling areas. The Iranian and Finland specimens showed three and two haplotypes, respectively. The Iranian haplotypes were placed in a single clade, while the Finland haplotypes we…

The implication of MBL deficient haplotypes in acute coronary syndrome

2014

An updated insight into the Sialotranscriptome of Triatoma infestans: developmental stage and geographic variations

2014

Background Triatoma infestans is the main vector of Chagas disease in South America. As in all hematophagous arthropods, its saliva contains a complex cocktail that assists blood feeding by preventing platelet aggregation and blood clotting and promoting vasodilation. These salivary components can be immunologically recognized by their vector's hosts and targeted with antibodies that might disrupt blood feeding. These antibodies can be used to detect vector exposure using immunoassays. Antibodies may also contribute to the fast evolution of the salivary cocktail. Methodology Salivary gland cDNA libraries from nymphal and adult T. infestans of breeding colonies originating from different loc…

Data from: Extinction and recolonization of maritime Antarctica in the limpet Nacella concinna (Strebel, 1908) during the last glacial cycle: toward …

2013

Quaternary glaciations in Antarctica drastically modified geographical ranges and population sizes of marine benthic invertebrates and thus affected the amount and distribution of intraspecific genetic variation. Here, we present new genetic information in the Antarctic limpet Nacella concinna, a dominant Antarctic benthic species along shallow ice-free rocky ecosystems. We examined the patterns of genetic diversity and structure in this broadcast spawner along maritime Antarctica and from the peri-Antarctic island of South Georgia. Genetic analyses showed that N. concinna represents a single panmictic unit in maritime Antarctic. Low levels of genetic diversity characterized this population…

Data from: The population genomics of archaeological transition in west Iberia: investigation of ancient substructure using imputation and haplotype-…

2018

We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. While discontinuity is evident in the transition to agriculture across the region, sensitive haplotype-based analyses suggest a significant degree of local hunter-gatherer contribution to later Iberian Neolithic populations. A more subtle genetic influx is also apparent in the Bronze Age, detectable from analyses including haplotype sharing with both ancient and modern genomes, D-statistics and Y-chromosome lineages. However, t…