Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
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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...
متن کاملDetection of CYP2C18 m1, and m2 Alleles within an Iranian Population (Mazandaran) Using Denaturing High-Performance Liquid Chromatography (DHPLC)
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...
متن کاملdetection of cyp2c18 m1, and m2 alleles within an iranian population (mazandaran) using denaturing high-performance liquid chromatography (dhplc)
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: in...
متن کاملDenaturing high-performance liquid chromatography for mutation detection and genotyping.
Denaturing high-performance liquid chromatography (DHPLC) is an accurate and efficient screening technique used for detecting DNA sequence changes by heteroduplex analysis. It can also be used for genotyping of single nucleotide polymorphisms (SNPs). The high sensitivity of DHPLC has made this technique one of the most reliable approaches to mutation analysis and, therefore, used in various are...
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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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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1998
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/26.6.1396