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Several genetic polymorphisms have been found to be associated with a higher incidence of undesirable side effects of atorvastatin.
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The international 1,000 Genomes Project under way is trying to draw the human genetic polymorphism map which is by far the most detailed and medically applicable.
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It analyzes both steady-state conditions within different cell populations, and in response to genetic and/or environmental perturbations created by natural genetic polymorphism, gene knock-out, gene knock-down by RNAi, or drug treatment.
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For instance, both mtDNA and Y chromosome polymorphisms show a noticeable genetic affinity between Swedes and central Europeans, especially Germans.
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Genetic studies have reported a significant association of the single nucleotide polymorphism (SNP) in the LAMA2 gene with myopia.
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Polymorphism is common in nature; it is related to biodiversity, genetic variation, and adaptation.
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In terms of positive developments, the current mapping of common variations in human DNA called single nucleotide polymorphisms (SNP maps) reveals a # per cent genetic similarity between all human beings
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In terms of positive developments, the current mapping of common variations in human DNA called single nucleotide polymorphisms (SNP maps) reveals a 99.9 per cent genetic similarity between all human beings.
老? 卢 修 斯 要求? 从 判? 决UN-2 UN-2
Certain triplet bases encode different amino acids (genetic code), so genetic polymorphisms that change a base can change an amino acid and this change can modify the functionality of the protein.
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What 23andMe offered was a $99 test for some 250 genetically linked conditions, based on a partial reading of single nucleotide polymorphisms (SNPs) – points where individuals’ genomes vary by a single DNA base pair.
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Since this method measures the amount of target relative to a presumably invariant control, relative qPCR is most often used to measure genetic polymorphism differences, for instance, between tissues or between healthy and diseased samples.
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The National Centre for Medical Genetics has had difficulty purchasing single-strand conformational polymorphism (SSCP) gels and tension kits with silver, used for screening mutations and to identify conformational changes in the different gene exons needed to diagnose conditions like cystic fibrosis, the Von Hippel-Lindau syndrome, congenital adrenal hyperplasia, Gaucher’s disease, galactosemia, and others.
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Around 10% of patients are at higher risk of haematological complications (cytopoenia, or a decrease in white blood cells, red blood cells or platelets) due to a possible genetic defect (partial thiopurine methyltransferase –TPMT- deficiency also known as genetic polymorphism).
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Therefore to know, through the study of genetic polymorphisms, the patient's phenotype, we will know in a personalized way if this patient needs the protocol dose, if he needs half or if it is better to switch to another medicine with the same therapeutic action, not metabolized through this enzyme but by another for which the patient is of phenotype EM.
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According to a mitochondria phylogenetic tree, combined with genetic characteristics of the Chinese population, 61 SNP loci which are high in polymorphism, low in mutation rate and strong in parting capacity are selected, wherein the 61 SNP loci comprise 54 loci in a coding region, 7 loci in a control region; the kit can be used for detecting the 61 SNP loci by virtue of specific primers.
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To simplify we will focus only on hepatic medicine metabolism in relation with genetic polymorphisms and we will discuss the mechanisms of transport through membranes and action by binding to the receptor in the target organ, although conceptually the result is same, more activity or less activity, i.e. more absorption through a membrane of a medication or more medicine delivery from the inside of a cell to the outside, more receptor binding plus therapeutic effect, less receptor binding less therapeutic effect.
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A recent cross-disorder genome-wide association study revealed that there were genetic similarities between multiple clinically defined diagnoses (including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder, and autism spectrum disorder) on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2.
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Population genetics analysis Use bioinformatics software (POPGENE, MEGA, PHYLIP and ARLEQUIN) to further analyze above data and then draw genetic linkage maps, analyze linkage disequilibrium and polymorphism.
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Whole genome resequencing refers to the case while there is a reference genome sequence , sequence the whole genome of the sample with shotgun sequencing and remap the reads to the reference genome sequence to find mutation contained in the range of the whole genome, Such as single nucleotide polymorphisms (SNP ), copy number variation (CNV ), indel (Insertion / Deletion), structural variation (SV ), for screening pathogenic genes and studying genetic mechanisms of pathogenesis.
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