New Mutation Site of Cholinesterase Gene

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

Evidence for mutation being the source of the abnormal gene for plasma cholinesterase.

Results of cholinesterase, dibucaine and fluoride numbers, and scoline hydrolysis rates are presented in a family found to have normal, silent and abnormal genes for plasma cholinesterase. Five sibs, confirmed by red cell grouping and tissue typing, have been shown to possess a cholinesterase pattern which cannot be explained on the basis of accepted theories of inheritance. In view of this it ...

New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and investigate the clinical and mutational characteristics in an index case and other members of a consa...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

New p53 Gene Mutation in non-Cancerous Mustard Gas Exposed Lung

Objective Mustard gas (MG) is a poisoning chemical, mutagenic and carcinogenic alkylating agent. It is used during World War I and also Iran-Iraq conflict. The p53 tumor suppressor gene is involved in the pathogenesis of malignant disease. The aim of this study is to determine possible mutation in p53 gene of lung sample from mustard gas exposed patients. Material and Methods Twelve lung bio...