Patent ID: 8092996

Claim:
A method for detecting deletions in the human cystic fibrosis transmembrane conductance regulator gene (CFTR) in a sample comprising nucleic acids, said method comprising: (a) amplifying at least seven different target segments of the human CFTR gene in a single tube using an oligonucleotide primer pair specific to each of said target segments, wherein the at least seven target segments comprise at least one target segment from each of the promoter, exon 1, exon 2, exon 22, exon 23, and exon 24; and (b) identifying the amplified target segments; and (c) determining the amount of each target segment amplified versus that for a wildlife human CFTR gene to determine the presence or absence of a deletion selected from the group consisting of: (i) a deletion in a segment of the CFTR promoter region including the adjoining CFTR exon 1 comprising at least about 1,800 nucleotides in length; (ii) a deletion in a segment of the CFTR promoter region including the adjoining CFTR exons 1 and 2 comprising at least about 28,000 nucleotides in length; and, (iii) a deletion of exons 22,23, and 24 but no other CFTR exons, wherein a substantial decrease in the amount of amplified target segments observed in the sample versus that for a human wildtype CFTR gene indicates a deletion in the CFTR segment in the sample.