ataxia-telangiectasia (at) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. the atm gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (at). the gene mutated in at, which has been designated as the atm gene, encodes a large protein kinase with a pi...

background: we aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (sct) and α thal /β thal mutations in south and south central of iran. method: we employed a pcr and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. all subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain ...

 Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance with male lethality. The gene responsible for this disorder, MECP2, was recently identified by cand...

Mutations in the XNP/ATR-X gene, located in Xq13.3, are associated with several X linked mental retardation syndromes, the best known being alpha thalassaemia with mental retardation (ATR-X). The XNP/ATR-X protein belongs to the family of SWI/SNF DNA helicases and contains three C2-C2 type zinc fingers of unknown function. Previous studies have shown that 65% of mutations of XNP have been found...

conclusions more studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. more research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the iranian population. backgrou...

cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin.  the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance.  autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...

according to the well-known classification of dyck, inherited peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (hmsn) or charcot – marie – tooth (cmt) disease, hereditary motor neuropathies (hmn), and hereditary sensory neuropathies (hsn). cmt is a clinically and genetically heterogeneous group of motor and sensory neuropathies, and is the most common inhe...