The invention belongs to the field of
molecular biology, and particularly relates to a method for detecting CAH related true and false genes. Specifically, the invention discloses the detection methodfor determining the
mutation condition of the CAH related genes. The CAH related genes comprise a CYP21A2
gene and a CYP11B1
gene. The method comprises the following steps of S1, extracting
DNA in asample and carrying out PCR amplification by using a primer group; S2, detecting an amplification product by using a third-generation sequencing platform; and S3, analyzing the sequencing result to obtain the
mutation condition of the CAH related genes. According to the method, the true and false genes are expanded together by designing the primer group, a
mutation type can be detected by long-fragment
library building sequencing, known CYP21A2 and CYP11B1
gene pathogenic mutations can be detected at the same time, the sensitivity is high, only 1-50ng of
DNA is required to be contained in thesample, the operation is convenient, the deletion of long fragments can be detected, the true and false genes can be distinguished, and meanwhile, the unknown
chromosome structural variation can be detected.