The cystic fibrosis gene and relationships to clinical status.

摘要: Cystic fibrosis (CF) is a disease characterized by significant variability in both presentation and clinical course. The genetic environmental factors responsible for the phenotypic expression of CF are most likely legion, their relationship to complex. Therefore, it was not until isolation characterization gene ability genotype individual patients that further elucidation genotype-phenotype possible. Currently, pancreatic status appears be primarily determined homozygous common mutation, delta F508 are, as rule, insufficient. Other specific alleles confer sufficiency have been identified. Patients having these alternative remain sufficient, diagnosed later, lower sweat chloride values, milder respiratory disease, better prognosis than with associated insufficiency. manifestations, including meconium ileus presence liver appear pulmonary course suggests heterogeneity at other loci or important. does precisely predict status.