Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC)
نویسندگان
چکیده
منابع مشابه
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
Denaturing high performance liquid chromatography (DHPLC) has been described recently as a method for screening DNA samples for single nucleotide polymorphisms and inherited mutations. Thirty-eight DNAs, 22 of which were heterozygous for previously characterized rearranged transforming gene (RET) or cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations or polymorphisms, were...
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Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the ident...
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Denaturing high-performance liquid chromatography (DHPLC) compares two or more chromosomes as a mixture of denatured and reannealed PCR amplicons, revealing the presence of a mutation by the differential retention of homo- and heteroduplex DNA on reversed-phase chromatography supports under partial denaturation. Temperature determines sensitivity, and its optimum can be predicted by computation...
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Background: Genetic polymorphisms of cytochrome p450 in humans are the main cause of differences in the metabolism. The allele and genotype frequencies of CYP2C19 and CYP2C9 have been studied in some Iranian populations. The aim of present study was to examine the frequencies of CYP2C18m1, and CYP2C18m2, alleles in the Mazandarani ethnic group among Iranian Population. Materials and Methods: I...
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Determination of the hepatitis C virus (HCV) genotype for infected patients increasingly has become accepted as the standard of care. Genotype assignment helps in assessing disease prognosis and assists in establishing the appropriate duration of treatment. The great genetic diversity of HCV, with 11 major genotypes and >70 subtypes, contributes to the technical difficulty of genotype testing. ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2003
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-003-0070-y