The
reagent composition for detecting the
autosomal dominant polycystic kidney disease comprises a primer group, a first
reagent for extracting
genomic DNA from a sample; the second
reagent is used for carrying out long fragment PCR reaction by using the primer group; a third agent for
processing the amplification product such that the amplification product can be used in a high-
throughput sequencing technique; and the fourth reagent is used for performing high-
throughput sequencing on the treated amplification product. Comprising the following steps: S1, amplifying a PKD1
gene by using a reagent composition according to any one of claims 1-7 through long-fragment PCR (
Polymerase Chain Reaction); s2, performing high-
throughput sequencing on the amplified sequence obtained in the step (1); s3, comparing the sequencing result obtained in the step (2) with a PKD1
gene reference sequence, and determining a
mutation site; s4, eliminating false
gene locus interference through
bioinformatics analysis, and determining a PKD1 true
gene mutation locus; and S5, comparing the true
gene mutation site determined in the step S4 with a known PKD1
gene mutation site, and determining a
new mutation site on the PKD1 gene.