INTRODUCTION Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered high...

background: retinoblastoma is the most common intraocular tumor in childhood and mutation in the rb1 gene will trigger the tumorigenesis. so far, a wide range of the mutations along the length of rb1 gene have been reported. however, some could not be detected by common detection methods. in such condition, linkage analysis using microsatellite markers is suggested to trace unknown rb1 mutation...

objective(s): iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. however, to date there is no reliable information on the application of the markers in the iranian pop...

The objectives of the present research were to evaluate the variability induced by gamma-irradiation among a population of M8 sunflower mutant lines and to identify molecular markers associated with different seed germination traits. Experiments were carried out under well watered and water-stressed conditions using a randomized blocks design, with three replications. The studied traits consist...

Idiosyncratic markers are features of genes and genomes that are so unusual that it is unlikely that they evolved more than once in a lineage of organisms. Here we explore further the potential of idiosyncratic markers and changes to typically conserved tRNA sequences for phylogenetic inference. Hard ticks were chosen as the model group because their phylogeny has been studied extensively. Fift...

background: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the muta­tion on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1.  methods: clinical exams and paraclinical test were performed for all patients of the case family, al...