mucopolysaccharidoses are a group of rare mostly autosomal recessive metabolic and genetic disorders. because of the high rate of consanguinity, they are not uncommon in our population. clinical diagnosis is not difficult for experienced physicians, but it is not enough for treatment and prevention measures in the future pregnancies. so, it is necessary to detect the type of mps by measurement ...

how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2.   for reading more pls see pdf

Rumen bacterial strains can potentially be manipulated to perform functions different from wild type species. The most numerous species of bacteria in the rumen and gut are species of the familyBacteroidetes, whichcan have the potential for genetic modification for enzyme production. One of the genetic manipulation of rumen bacteria can perform for production of starch digestive enzyme for the ...

single-gene disorders occur when mutation in a gene causing alteration of gene function while in multifactorial disorders, mutations occur in multiple genes, and these are usually coupled with environmental causes. in addition, in a multifactorial disorder such as diabetes, the complication is under the influence of different genes. for example, in diabetic retinopathy many genes are involved i...

background: sarcoidosis is a multisystem inflammatory disease of unknown origin with characterization of small granulomas. angiotensin-converting enzyme (ace) is a pathophysiologic marker of sarcoidosis. we present the ace insertion/deletion (i/d) polymorphism in correlation with serum ace level in iranian patients with sarcoidosis. methods: from jan 2014 to jan 2015, 102 iranian patients who h...

anthracnose caused by colletotrichum gloeosporioides s. l. is one of the most important diseases of citrus in northern iran. to study the genetic structure of c. gloeosporioides s. l. from citrusspp., infected samples were collected from three citrus cultivating regions of northern iran, during the summer of 2009. fifty one monoconidial isolates were used as the objective of rep- and box-pcr fi...

conclusions in this experimental study, for the first time in iran the expression and purification of this recombinant protein was done successfully. this recombinant protein could be used as a vaccine candidate and diagnostic purpose in subsequent investigations. results the highest expression of the cytochrome p450 cyp141 protein was obtained by the addition of 1 mm of isopropyl β-d-1-thiogal...

it has been more than half a century that plant geneticists and breeders have been trying to assemble a combinationof genes in crop plants, in order to make them as suitable and productive as possible. plant transformation technology incrop plants was first undertakenin the 1980s based on the ability of foreign gene integration into host plant genome andregeneration of transformed plant cells i...

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...