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Single nucleotide polymorphisms (SNPs) are the most frequent polymorphism in the genomes of animals and plants.
Although more than 50 genetic lesions in the UGT1A1 gene have been described (Kadakol et al, 2000), the UGT1A1*28 allele (the most frequent polymorphism in Caucasian populations) plays a crucial role in the development of toxicity after irinotecan chemotherapy.
Further, the most frequent polymorphism in the SULT1A1 gene is a G→A transition at nucleotide 638, defining the SULT1A1*2 allele, which is correlated with a diminished capacity to sulphate SULT1A1 substrates [ 22].
In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in contrast, the most frequent polymorphism (Val103Ile, rs2229616; heterozygote frequency approximately 2%) was shown to be negatively associated with obesity.
With the rapid development of DNA sequencing and genotyping technologies, single nucleotide polymorphism (SNP) [ 11], the most frequent polymorphism in genome, became the most favored DNA markers for linkage mapping and whole genome association studies in humans [ 12] and model organisms [ 13].
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The most frequent polymorphisms, IS-8 and iIS+69 (which account for >80% of changes), abrogate the up-regulation of capsule expression associated with insertion of IS1301 in MenC and do not confer increased resistance to complement-mediated killing.
Single nucleotide polymorphisms (SNPs) are the most frequent polymorphisms in the genomes of most organisms.
The two most frequent polymorphisms of BCRP among over 50 others are 34G>A and 421C>A [67], [67].
Single nucleotide polymorphisms (SNPs) and insertion/deletion events (Indels) represent the most frequent polymorphisms found in eukaryotic genomes.
The most frequent polymorphisms present in Finnish Landrace were R151C and E224K (6.6 and 5.8% of sheep studied, respectively), both of which have been described before [ 17, 18, 29].
In the control region, the two most frequent polymorphisms in breast cancer patients occurred at np 16290T-ins and 16293A-del in 95% and 75% of cases, respectively, but only in <5% of control individuals.
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