Study on the pathogenic gene mutation of a pedigree of autosomal dominant congenital nuclear cataract

Abstract

Objective To study the mutations of pathogenic genes in a pedigree of autosomal dominant congenital nuclear cataract, and explore their potential defects in molecular genetics. Methods A pedigree diagnosed with autosomal dominant congenital nuclear cataract was selected, 6 cataract patients in the pedigree randomly chosen as experimental group, and 6 related normal members chosen as control group. 5 ml of peripheral blood was collected and genome DNA was extracted. The mutations of candidate gene were detected by PCR in direct sequencing in the experimental group and the control group, the results were analyzed. Result c.139G>A hybrid missense mutation was found in Gene GJA8 in the experimental group, but this change was not shown in the control group. ConclusionA new mutation spot (D47N) was found in GJA8 gene exon in Chinese pedigree, which provided a theoretical basis for pathogenesis, diagnosis, and therapy in congenital nuclear cataract research. Key words: Autosomal dominant inheritance; Congenital nuclear cataract; Pathogenic genes