Search results for "Genetic marker"
showing 10 items of 290 documents
Further studies on associations between leprosy and genetic markers in human serum.
1973
Seven serum proteins were typed on a sample of 910 individuals from Angola, Africa. The sample consisted of both leprosy patients and healthy controls from the same geographical area. Significant associations with leprosy were found for the Hp and Pi systems. The results are discussed.
Neuroblastoma with MYCN amplification plus 11q deletion: immunohistochemical expression of angiogenic factors
2010
Neuroblastoma (NB) is an extra-cranial solid neoplasm in childhood. Genetic markers as MYCN amplification (MNA) and deletion of 11q (11q ) are considered factors with an adverse prognosis. Usually, an inverse relationship between MNA and 11q is found. Approximately 13% of the MNA cases present with 11q . These cases show a dramatic decline in survival rates. Hypoxia-inducible factor-2a (HIF-2a) protein expression has been described as an indicator of poor outcome, has been correlated with an aggressive phenotype in NB, and serves as a marker for stem cell-like phenotypes. Additionally, HIF-2a positive cells strongly express vascular endothelial growth factor (VEGF) and, as such, could be in…
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
2006
Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…
Triatomine vectors of Trypanosoma cruzi: a molecular perspective based on nuclear ribosomal DNA markers.
2002
Chagas disease (American trypanosomiasis) is mainly transmitted by blood-sucking bugs of the reduviid subfamily Triatominae (Hemiptera: Prosorrhyncha). Control strategies are directed mainly against these insect vectors, as no vaccine is available and, except in the very early stage of infection, there is no effective chemotherapy. Studies of deoxyribonucleic acid (DNA) will lead to major advances in our knowledge of Triatominae and their relationships to Chagas disease transmission, epidemiology and control. Analyses of complete sequences of nuclear genes coding for ribosomal ribonucleic acid (rRNA) (rRNA genes) and spacers furnish significant information at the levels of higher taxons, ge…
The eighth component of human complement: molecular basis of C8A (C81) polymorphism.
1995
Using an exon-specific polymerase chain reaction (PCR) followed by direct DNA sequence analysis we have analyzed the polymorphism of the alpha-chain of the eighth component of human complement (C8) at the DNA level. We found that two common alleles, C8A*A and C8A*B, are characterized by the substitution of a single amino acid (Gln to Lys), which is caused by a point mutation of a single nucleotide (C to A) in exon 3 at position 187 of the mature C8 alpha cDNA sequence. Based on this mutation, an allele-specific PCR was designed detecting the two alleles of C8A. We applied this method to type the C8A polymorphism using DNA samples from a Chinese Han population. The comparison with the data o…
Diagnostic algorithm for familial chylomicronemia syndrome
2016
International audience; Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods: Aiming to def…
Coat darkness is associated with social dominance and mating behaviour in a mountain sheep hybrid lineage
2008
Natural hybridization can produce novel traits when morphologically different populations hybridize, and can introduce variation in traits that become associated with sexual selection. Evidence from breeding experiments and genetic markers indicate that the great variation in coat darkness and the unique coat patterns found in Stone's sheep Ovis dalli stonei, populations, have resulted from an ancient hybridization event between thinhorn sheep, O. dalli, and bighorn sheep, O. canadensis. Behavioural evidence gathered in 2003 and 2004 in Yukon Territory, Canada, showed that higher dominance rank was correlated with increasing darkness in rams, and comparatively darker rams were seen more oft…
The Origin of Isolated Populations of the Mountain Weevil, Liparus glabrirostris—The Flagship Species for Riparian Habitats
2020
AbstractLiparus glabrirostris is one of the largest European weevils, and it has been recently proposed as the flagship species for threatened riparian habitats in the mountains. For effective conservation of its populations (and associated habitats), it is crucial to understand its history, contemporary distribution, genetic diversity and predict changes in the range, including its highly isolated populations on the Baltic coast. Here, we examined numerous populations of L. glabrirostris across almost the entire species range using phylogeography and species niche modeling (SNM) approaches. Analyses of mtDNA and nucDNA markers revealed the existence of 2 major mitochondrial lineages genera…
Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe
2021
Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA…
Paternity testing of endangered species of birds by DNA fingerprinting with non-radioactive labelled oligonucleotide probes
1993
In the last years, DNA fingerprinting became the most powerful tool for identification and paternity testing in man. The success of this method encouraged the German Federal Ministry of Environment, Natural Protection and Reactor Safety to apply DNA fingerprinting in the field of protection of endangered species of birds, such as birds of prey or parrots. In the last three years, we received more than 400 blood and tissue samples of 23 species of birds of prey or parrots, most of them obtained by confiscation, to establish paternity and legal breeding success. We used digoxigenated oligonucleotide probes, mainly (GGAT)4 and (GACA)4 for hybridization. In most cases of confiscated families of…