Search results for "Denaturing high performance liquid chromatography"

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No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

2005

A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…

ProbandBenign NeonatalMigraine DisordersMutation MissenseBenign familial infantile convulsionsBiologymedicine.disease_causeDenaturing high performance liquid chromatographyBenign familial infantile convulsions; Epilepsy; Familial hemiplegic migraine; Genetics; Epilepsy Benign Neonatal; Exons; Family Health; Humans; Infant; Introns; Italy; Migraine Disorders; Sodium-Potassium-Exchanging ATPase; Mutation MissenseExonATP1A2GeneticsmedicineHumansMissense mutationGeneFamilial hemiplegic migraineFamilial hemiplegic migraineFamily HealthGeneticsMutationEpilepsyGeneral NeuroscienceInfantExonsmedicine.diseaseEpilepsy Benign NeonatalIntronsItalyMutationBenign familial infantile convulsionMissenseSodium-Potassium-Exchanging ATPaseNeuroscience Letters
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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

2009

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted al…

Phenylalanine hydroxylasePhenylketonuriasDNA Mutational AnalysisClinical Biochemistrygene dosageCompound heterozygosityBiochemistryGene dosageDenaturing high performance liquid chromatographyExonHyperphenylalaninemiaGene FrequencyPhenylketonuriasmedicineHumansMultiplex ligation-dependent probe amplificationMolecular BiologySequence DeletionGeneticsphenylalanine hydroxylase; phenylketonurias; ligase chain reaction; gene deletion; gene dosagebiologygene deletionReverse Transcriptase Polymerase Chain ReactionPhenylalanine HydroxylaseExonsmedicine.diseaseMolecular biologyItalyDisease Progressionbiology.proteinligase chain reactionMolecular MedicineOriginal ArticleExperimental and Molecular Medicine
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