METHOD FOR DETECTING CYSTIC FIBROSIS

摘要

The present invention relates to methods for simultaneously determining the presence or absence of mutations, deletions, duplications and single nucleotide polymorphisms in a cystic fibrosis transmembrane regulator (CFTR) nucleic acid. Oligo nucleotide primers and kits used to amplify regions of a CFTR nucleic acid for high throughput, massively parallel sequencing and methods of determining an individual's cystic fibrosis status are also disclosed.

主权项

1. A method for determining the nucleotide sequence of a sample CFTR nucleic acid comprising
(a) producing an adapter-tagged amplicon library by amplifying multiple target segments of the sample CFTR nucleic acid and (b) determining the nucleotide sequences of the target segments by sequencing the amplicons in the amplicon library using high throughput massively parallel sequencing.