ZNF644 mutational screening for families with high myopia

Objective To identify whether 10 families with high myopia are related with ZNF644 mutations.Methods Ten families with high myopia that meet the rule of autosomal dominant inheritance were recruited and peripheral blood were collected.Detailed clinical examines were performed for 99 members,all of whom were agreed to participate in this research.Genomic DNA was extracted.All ZNF644 gene exon fragments in probands were amplified by PCR,and then forward and backward sequencing were performed to identify the single nucleotide polymorphism or mutations.Results There were three reported single nucleotide polymorphism founded after the sequencing,which were rs358691,rs17131232 and rs76101054,no mutation founded of gene ZNF644 in the probands of ten high myopia pedigrees.Conclusion High myopia has genetic heterogeneity,and the mutation of ZNF644 may be partly related to the pathogenesis of high myopia.