2.2 Whole exome sequencing (WES), parental generation verification and rearrangement deletion detection
200ul of whole blood samples were taken from all subjects for second-generation sequencing of all exons and flanking sequences ofCFTR , and DNA was extracted from all samples using QIAGEN DNA Blood Midi/Mini kit (Qiagen GmbH, Hilden, Germany).
200ul was taken from the whole blood samples of the parents of some subjects for the first-generation verification of CFTR . A blood / tissue / cell genome extraction kit (Tiangen biochemical Technology Co., Ltd., DP304-03) was used to extract genomic DNA.