Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene.

Source and Description: Direct genomic sequencing revealed a C to A polymorphism 65 nucleotides in front of exon 19 (nucleotide 3601-65) of the CFTR gene that is causative defective in cystic fibrosis (CF) (1). This polymorphism generates cleavage sites for Hinfl and MboII and is useful as an intragenic marker for the assignment of marker haplotypes of known CF mutations and for carrier screening and prenatal diagnosis in CF families with yet unknown mutations in CFTR.