The invention relates to an MAF
gene mutant causing congenital cataract
disease phenotype, a polypeptide, a kit, a construct, a recombinant
cell and application, belonging to to the technical field of biological
gene engineering. The MAF
gene mutant disclosed by the invention is characterized in that
nucleotide at the 788 site of a No. 1
exon of an MAF gene is subjected to A-G
mutation. The polypeptide has p.D263G
mutation. The kit can be used for screening biological samples susceptible to congenital cataract and contains a
reagent for detecting the MAF
gene mutant. The
nucleic acid construct contains the MAF
gene mutant. The recombinant
cell is obtained by transfecting recipient cells with the
nucleic acid construct containing the MAF
gene mutant, and can express the MAF polypeptide with the p.D263G
mutation. The method can be used for molecular
genetic diagnosis of congenital cataract, and provides a basis for prenatal gene diagnosis of patients with cataract caused by MAF
gene mutation.