The invention relates to the technical field of molecular diagnosis, in particular to an F8
gene mutation detection probe group and a kit based on PacBio
liquid phase hybridization capture. The probe group comprises sequences as shown in SEQ ID NO. 1 to SEQ ID NO. 313; the F8
gene specific probe is designed, a PacBio sequencing platform is adopted, the type, position and
breakpoint of F8
gene mutation can be more accurately determined, the risk of
missed diagnosis and misdiagnosis is reduced, when complex variations such as inversion of
intron 22 and inversion of
intron 1 of the F8 gene are detected, the position of the inverted
breakpoint can be clearly recognized through PacBio sequencing, the detection period is shortened, and the detection efficiency is improved. And a way is provided for
clinical diagnosis of hemophilia A.