the booroola fecundity gene (fecb) and growth differentiation factor 9 (gdf9) gene belong to the transforming growth factor β (tgf-β) superfamily. the mutations of these genes have additive effects on the prolificacy in sheep. the aim of the present study was to determine the possible mutations of fecb and fecgh genes in lory sheep breed of the lorestan province, iran. sixty blood samples were ...

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

objective(s):familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. fmf affects mainly mediterranean populations and is caused by mutations in the familial mediterranean fever (mefv) gene. the aim of this study was to identify the frequency and distribution of mefv mutations in irani...

 Background: Breast cancer is one of the most common cancer of women in the world.  Although different genetic alteration has been reported in this malignancy, but P 53 gene  mutations has more frequency. P 53 gene is one of the most important suppressor genes and it  play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...

background: beta thalassemia is a common inherited disease, resulting from one or more of 200 different mutations in the beta-globin gene. qazvin province has attracted migrations of several different populations due to industrialization during the past five decades. the aim of this study was to define the molecular spectrum of beta-thalassemia mutations in qazvin province.   methods: ethylen d...

Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...

Background & Objective: Mutations in embB306 gene and their association with resistance to ethambutol (EMB) in Mycobacterium tuberculosis (M. tuberculosis) have not been fully investigated. The aim of this study was to investigate the point-mutations in emb306B gene and their association with resistance to EMB in M. tuberculosis. Materials & Methods: This case (M. tuberculosis resistant to EMB...

Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...

introduction : pancreatic cancer has not been well studied, especially in developing countries. materials and methods : we studied the variations in genetic mutations in pancreatic adenocarcinoma between moroccan and egyptian populations. the molecular pathology of 30 tumors from a large hospital in casablanca, morocco were examined and compared with the findings of 44 tumors from the gharbiah ...