Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...

background nucleus(t)ide analogs (nas), containing lamivudine (lmv), adefovir dipivoxil (adv), endeavor (etv), telbivudine (ldt), and tenofovir (tdf) are widely used for the treatment of chronic hepatitis b (chb), but long term anti-hepatitis b virus (hbv) therapy with nas may give rise to the emergence of drug-resistant viral mutants. objectives this study aimed to find and identify some new r...

γD-crystallin is one of the major structural proteins in human eye lens. The solubility and stability of γD-crystallin play a crucial role in maintaining the optical properties of the lens during the life span of an individual. Previous study has shown that the inherited mutation G61C results in autosomal dominant congenital cataract. In this research, we studied the effects of the G61C mutatio...

background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...

Characterization of two antimutator loci in yeast shows that both are members of the same mutagenic repair system known to be responsible for almost all induced mutation (LAWRENCE and CHRISTENSEN 1976, 1979a,b; PRAKASH 1976). One of the these newly isolated antimutator mutations is an allele of rev3 (LEMONTT 1971b). Two other alleles of rev3 were tested and were also found to be antimutators. D...

The DNA polymerase 4 protein (Pol4) of Saccharomyces cerevisiae is a member of the X family of DNA polymerases whose closest human relative appears to be DNA polymerase lambda. Results from previous genetic studies conflict over the role of Pol4 in vivo. Here we show that deletion of Pol4 in a diploid strain of the SK1 genetic background results in sensitivity to methyl methanesulfonate (MMS). ...