The prevalence of gene mutation in Cystic Fibrosis (CF) in Children medical center Tehran from 1395-1400
Authors/Creators
- 1. Department of Medical Science, Bachelor's of Medicine, Tehran University of Medical Science, Iran
Description
Abstract
Introduction: Cystic fibrosis (CF) is a multisystem disorder caused by pathogenic mutations of the CFTR gene (CF transmembrane
conductance regulator). Pulmonary disease remains the leading cause of morbidity and mortality in patients with CF. It is also
responsible for many cases of hyponatremic salt depletion, nasal polyposis, pansinusitis, rectal prolapse, pancreatitis, cholelithiasis,
and non-autoimmune insulin-dependent hyperglycemia. CF occurs most frequently in white populations of northern Europe and
Australia/New Zealand. CF is inherited as an autosomal recessive trait. The CF gene codes for the CFTR protein, which is 1,480
amino acids. CFTR is expressed largely in epithelial cells of airways, the gastrointestinal tract (including the pancreas and biliary
system), the sweat glands, and the genitourinary system. CFTR is a member of the adenosine triphosphate–binding cassette
superfamily of proteins. It functions as a chloride channel and has other regulatory functions that are perturbed variably by the
different mutations. More than 1,900 CFTR polymorphisms have been described, But Those with clinical manifestations may be
grouped into 6 main classes based upon how they impact upon protein structure and function.Mutation class I-III are generally
considered to be severe mutations in that they lead to a complete or nearly complete absence of CFTR function, whereas class IV-VI
mutations are associated with some residual functional protein. The most prevalent mutation of CFTR is the deletion of a single
phenylalanine residue at amino acid 508 (F508del)
Method:This is a Retrospective cross-sectional observational study that will study patients that have been admitted in Children
Medical Center from 1395-1400. We will assess all of the patient's files and extract useful correlated data. We will evaluate all data including, patient’s admission code. Statistically we will analyze the data by using SPSS software.
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References
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