| abstract |
The invention belongs to the technical field of biological genetic engineering, and discloses a CYP4F22 gene mutant, a polypeptide, a kit, a construct and a recombinant cell. The nucleic acid encoding the CYP4F22 mutant is the 844th nucleotide of the No. 8 exon, There is a C→T mutation, or the 1189th nucleotide of exon 11, there is a C→T mutation; the polypeptide has p.R282W or p.R397C mutation; the kit contains specific detection of CYP4F22 gene mutant p A reagent for R282W or p.R397C; the nucleic acid construct contains a CYP4F22 gene p.R282W or p.R397C mutant; the recombinant cells are obtained by transfecting recipient cells with the nucleic acid construct. The invention can be used for auxiliary diagnosis of congenital ichthyosis, for finding potential carriers of congenital ichthyosis, and providing basis for prenatal genetic diagnosis of the disease. |