introduction: colorectal cancer (crc) is one of the most prevalent cancers in the world. genetic disorders and dietary habits play a part in crc. the most important cancer suppressor gene is p53. different mutations rates in 7th exon of p53 gene are reported in different areas  which may have a relationship with prognosis of crc. this study examines the relationship between mutation in 7th exon...

hnf4a-p.i463vvariant, reported previously in two distinct families suspected of mody-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 tunisian healthy people were screened for the presence of hnf4a-p.i463v variant, using rflp-pcr technique and sequencing. then, the frequency of this variant was estimated in the tunisian population and com...

mammalian ∆-(1)-pyrroline-5-carboxylate synthase (p5cs) enzyme catalyzes the coupled phosphorylation and reduction-conversion of glutamate to ∆-(1)-pyrroline-5-carboxylate (p5c), a critical step in the proline, ornithine, citrulline and arginine biosynthesis. in plants and mammals, p5cs consists of two separate enzymatic domains: n-terminal γ-glutamyl kinase (γ-gk) and c-terminal γ-glutamyl pho...

Background: The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (PML-RARA) fusion gene may contribute to the acute promyelocytic leukemogenesis. Chromosomal alterations and mutation of FLT3 (FMS-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. However, the prognostic significance of FLT3 mutat...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

meduiiary thyroid carcinoma (mtc) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (men) type 2 syndromes. the distinction between true sporadic mtc and a new mutation familial case is important for future clinical management of both the patient and family. the susceptibility gene for hereditary mtc is the ret proto-oncogene. dna analysis for germl...

background: mucopolysaccharidosis type-vi (mps-vi), which is inherited as an autosomal recessive trait, results from the deficiency of n-acetylgalactosamine 4-sulfatase (arylsulfatase b) activity and the lysosomal accumulation of dermatan sulfate. in this study, arsb mutation analysis was performed on three unrelated patients who were originally from the west azerbaijan province of iran. method...

wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...

introduction: a number of maternally inherited mitochondrial diseases with distinct clinical phenotypes have been associated with point mutations in mtdna, all of which result in neurologic or neuromuscular disorders. several studies showed that mutations in the trna genes of mtdna could cause mitochondrial disease due to the decreased synthesis of mitochondrial dna coded proteins. materials an...