Familial specific genetic disease correlated allele haplotype variation tag confirmation method

The invention provides a familial specific genetic disease correlated allele haplotype variation tag confirmation method. The method comprises the following steps: selecting at least five persons from a family with the Mendelian hereditary disease to extract genomes DNA; acquiring targeted gene information related with the disease; amplifying and sequencing DNA fragments in the targeted gene interval of each genome DNA; respectively choosing all variation sites of each genome DNA in the targeted gene interval; acquiring the genetype of each variation site in each genome DNA; and performing genetic analysis according to the parting result of the variation sites in the genome DNA together with the disease characters to determine a disease correlated allele haplotype variation tag. According to the method, the PCR amplicon sequencing is performed only on the specific disease correlated gene exon, the target area is small, the sequencing cost is low, the implementation period is short, and the result is reliable. The method can be applied to preimplantation genetic diagnosis PGD of test-tube baby embryos or prenatal diagnosis PD.