Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles

摘要

Cystic fibrosis is the most common severe autosomal recessive disorder in Caucasians, with a frequency of 1 in 2000 live births and a carrier frequency of approximately 5 percent. It is a multi-system disorder that leads to chronic pulmonary and exocrine pancreatic disease, associated with elevated sweat electrolytes and male infertility due to bilateral absence of the vas deferens. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are the genetic cause of this disease, and their identification allows molecular diagnosis in patients, carrier and prenatal testing in cystic fibrosis families, and population screening (NIH consensus statement, 1997).