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translational - Bioinformatics Institute
translational - Bioinformatics Institute

... ROLES OF RNA IN TRANSLATION Three types of RNA molecules perform different but complementary roles in translation: ...
Complex genetic background in a large family with Brugada syndrome
Complex genetic background in a large family with Brugada syndrome

... The Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1–V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, althoug ...
univERsity oF copEnhAGEn
univERsity oF copEnhAGEn

... Several variations in the FCN genes were found in more than one primate specie suggesting that they were carried from one species to another including humans. The amino acid diversity of the ficolins among human and non-human primate species was estimated by calculating the Shannon entropy revealing ...
Causes, Risks, Prevention
Causes, Risks, Prevention

... Certain genetic syndromes/birth defects There is a strong link between Wilms tumors and certain kinds of birth defects. About 1 child in 10 with Wilms tumor also has birth defects. Most birth defects linked to Wilms tumors occur in syndromes. A syndrome is a group of symptoms, signs, malformations, ...
Demarcation of coding and non-coding regions of DNA using linear
Demarcation of coding and non-coding regions of DNA using linear

... intergenic DNA, or the junk DNA. Two regions can be distinguished in the gene- the exons, or the regions that code for amino acid, and the introns, or the regions that do not code for amino acid. The main aim of the thesis is to study signal processing techniques that help distinguish between the re ...
Correlation of length of VNTR alleles at the X
Correlation of length of VNTR alleles at the X

... chosen to specifically examine the hypothesis that the length of the repeat might be associated with a phenotypic effect. An X-linked gene was chosen since, at least when males are studied, the complication of how to interpret heterozygotes is avoided. An MAO gene was chosen because it is X-linked. ...
chapt20_lecture
chapt20_lecture

... dominant individuals and a heterozygote individual? • Be able to draw a punnett square for any cross (1-trait cross, 2-trait cross and a sex-linked cross). • What are Tay-Sachs disease, Huntington disease, sickle-cell disease, and PKU? • How are each of the above inherited? • What is polygenic inher ...
Meiosis I - My Teacher Site
Meiosis I - My Teacher Site

... chromosomes in a cell at metaphase at meiosis II? • 2) Given that the synaptonemal complex disappears by the end of prophase, how would the two homologs be associated if crossing over did not occur? What ...
A locus for posterior polymorphous corneal dystrophy (PPCD3
A locus for posterior polymorphous corneal dystrophy (PPCD3

... with a 5.1 cM one-LOD support interval whose boundaries are roughly approximated by D10S208 and D10S578. An analogous affecteds-only multipoint analysis also suggested significant evidence of linkage of PPCD with a maximum multipoint LOD score of 3.53 at marker D10S208 (Fig. 2), although it appears ...
Clinical and genetic patterns ofneurofibromatosis 1 and 2
Clinical and genetic patterns ofneurofibromatosis 1 and 2

... The diseases traditionally known as neurofibromatosis have now been formally separated into two types: neurofibromatosis type 1 or NFl (the type described by von Recklinghausen) and neurofibromatosis type 2 or NF2 (a much rarer form).' It is now recognised that although they have overlapping feature ...
Aberrant DNA methylation in cancer: potential clinical
Aberrant DNA methylation in cancer: potential clinical

... Alterations in DNA methylation might be pivotal in the development of most cancers. In recent years, it has become apparent that the pattern of DNA methylation observed in cancer generally shows a dramatic shift compared with that of normal tissue. Although cancers often exhibit clear reductions thr ...
A possible association between panic disorder
A possible association between panic disorder

... The rare polymorphism rs34911341 C4T implies the amino acid exchange Arg51Gln. Carriers of the Arg51Gln genotype have significantly lower plasma ghrelin concentrations than Arg51Arg carriers, even when adjusted for fat mass (Ukkola et al., 2002). While this SNP did not show any statistically significa ...
Requirements for Driving Antipathogen Effector Genes into
Requirements for Driving Antipathogen Effector Genes into

... carrying a cargo gene have been published in Drosophila and Anopheles using a natural homing endonuclease and engineered zinc finger, TALE, and CRISPR nucleases (Chan et al. 2011, 2013a,b; Simoni et al. 2014; Gantz and Bier 2015; Gantz et al. 2015; Hammond et al. 2016). The homing reaction depends up ...
Plant speciation through chromosome instability and ploidy change
Plant speciation through chromosome instability and ploidy change

... and evolvability compared to their diploid counterparts. Studies using neo- and synthetic polyploids have revealed that polyploidy induces distinct phenotypic and morphological changes, such as differences in flowering time and flower number [23], plant structure and root architecture, as well as alte ...
Article Genetic Signatures Reveal High-Altitude
Article Genetic Signatures Reveal High-Altitude

... moderate degree of genetic similarity with some non-African populations. Figure 1 shows Ethiopian populations clustering between sub-Saharan Africans and non-Africans. Notably, African Americans also lie between sub-Saharan Africans and non-Africans, and they are known to have about 20% of European ...
Control of GL2 expression in Arabidopsis leaves and trichomes
Control of GL2 expression in Arabidopsis leaves and trichomes

... • Because both GL1 and R are required to ectopically activate GL2, it is possible that GL1 and R function as a complex • A construct containing the GL1 gene with a myc epitope as an Nterminal fusion was generated – This same epitope fusion was made to a truncated version of the GL1 protein that expr ...
Genetics of fibrosing lung diseases REVIEW
Genetics of fibrosing lung diseases REVIEW

... cases, which were all classified as IPF on the basis of highresolution computed tomographic findings (93%) and/or the histological pattern (32%). The authors estimated that familial cases account for 0.5–2.2% of all patients with IPF, with a prevalence of 1.34 cases per million in the UK population. ...
Partitioning the Genetic Variance
Partitioning the Genetic Variance

... In lecture 2, we showed how to partition genotypic values G into their expected values based on additivity (G A ) and deviations from the additivity as a result of dominance (δ ) For this decomposition, individuals with alleles Ai and Aj at a locus have a mean genotypic value of Gij = GijA + δij = µ ...
Hybrid breakdown between two haplodiploid species: The role of
Hybrid breakdown between two haplodiploid species: The role of

Investigation of Four Genes Responsible for Autosomal Recessive
Investigation of Four Genes Responsible for Autosomal Recessive

... For GCNT2 three splicing variants GCNT2A, -B, and -C, which differ at exon 1 but have identical exon 2 and 3 coding regions, are expressed differentially in specific tissues. Mutation events that occur in the specific exon 1 region of the GCNT2 gene may lead to a defect in one form of the GCNT2 enzy ...
Comparative analysis of mono(2-ethylhexyl)phthalate (MEHP) and
Comparative analysis of mono(2-ethylhexyl)phthalate (MEHP) and

... recently demonstrated to disturb fat cell energy metabolism; however, the underlying mechanism remained unclear. The study aimed to determine how MEHP influenced fat cell transcriptome and how the changes might contribute to bioenergetics. Because of the pivotal role of PPARγ in energy metabolism of ...
BIOINFORMATICS
BIOINFORMATICS

... IBM Computational Biology Center, IBM Research, Yorktown Heights, New York 10598,USA ...
Linkage, Recombination, and the Mapping of Genes on Chromosomes
Linkage, Recombination, and the Mapping of Genes on Chromosomes

... quite often. Geneticists can use data about how often genes separate during transmission to map the genes’ relative locations on a chromosome. Such mapping is a key to sorting out and tracking down the components of complex genetic networks; it is also crucial to geneticists’ ability to isolate and ...
Haploids and Doubled Haploids in Plant Breeding
Haploids and Doubled Haploids in Plant Breeding

... Haploids are plants (sporophytes) that contain a gametic chromosome number (n). They can originate spontaneously in nature or as a result of various induction techniques. Spontaneous development of haploid plants has been known since 1922, when Blakeslee first described this phenomenon in Datura str ...
Protein quality of wheat cultivars grown in eastern Croatia in relation
Protein quality of wheat cultivars grown in eastern Croatia in relation

... The mean values and their standard errors for the analysed traits of the two crosses are presented in Table 1. Parents used in this research have shown difference in all the characters studied in both crosses, except for the grain weight per spike of the longest culm in Soissons/Žitarka cross. Mean ...
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History of genetic engineering

Genetic modification caused by human activity has been occurring since around 12,000 BC, when humans first began to domesticate organisms. Genetic engineering as the direct transfer of DNA from one organism to another was first accomplished by Herbert Boyer and Stanley Cohen in 1973. Advances have allowed scientists to manipulate and add genes to a variety of different organism and induce a range of different effects. Since 1976 the technology has been commercialised, with companies producing and selling genetically modified food and medicine.
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