The application belongs to the technical field of
gene detection, and particularly relates to a construction method and kit of a
gene library for detecting new mutations of dominant monogenic diseases before
embryo implantation. The application provides a construction method of a
gene library for detecting new mutations of dominant monogenic diseases before
embryo implantation, which comprises the step of amplifying the gene of the
new mutation of dominant monogenic diseases before
embryo implantation and related
copy number variation fragments in the
genomic DNA of specific screening. The application precisely applies NGS sequencing technology to the screening of dominant monogenic diseases in trace
cell samples, breaks through the technical
bottleneck of high-
throughput sequencing under extremely low initial
DNA amount in the past, and realizes the screening of new mutations before embryo implantation, thereby providing a brand-new key technical path for blocking genetic birth defects at an earlier stage.