phenylketonuria (pku) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (pah) gene. this gene is linked to a variable number of tandem repeats (vntr) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. in this study, vntr with 13 repeats that has not been reported previously ...

the lack of authentic standards has limited the quantitative analysis of herbal drugs in biological samples. the present work demonstrated a practicable strategy for the assay of herbs and their metabolites independent of authentic standards. a liquid chromatography–electrospray ionization–mass spectrometry (lc–esi–ms) method for the qualitative and quantitative determination of the metabolites...

methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...

this study aimed to investigate the contribution of four common dfnb (“dfn” for deafness and “b” for autosomal resessive locus) loci and gjb2 gene mutations (exon 2) in hearing impairment in individuals living in markazi and qom provinces of iran. forty consanguineous iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

SUMMARY Tandem mass spectra obtained from fragmenting peptide ions contain some peptide sequence specific information, but often there is not enough information to sequence the original peptide completely. Several proprietary software applications have been developed to attempt to match the spectra with a list of protein sequences that may contain the sequence of the peptide. The application TA...

objective(s): short tandem repeat (str) loci are the most informative dna genetic markers for attempting to individualize biological material for application in paternity and forensic cases. materials and methods: blood samples were collected and the total genomic dna was extracted. the dna samples were used for genotyping vwa and tpox str loci using pcr and polyacrylamide gel electrophoresis. ...

fms-like tyrosine kinase-3 is a receptor tyrosine kinase expressed by immature hematopoietic cells and is important for the normal development of stem cells and the immune system. mutations of fms-like tyrosine kinase-3 have been detected in about 30% of patients with acute myelogenous leukemia and a small number of patients with acute lymphoblastic leukemia. the fms-like tyrosine kinase-3 muta...