Screening Of The2Congenital Cataract Families Of Crybb1Exon6Gene Mutation By PCR-SSP

Background Based on the research of the task group in early studies,to an autosomal dominant congenital cataract pedigrees candidate genes in the genome sequence CRYBB1crystal proteins found sequencing genes to the exons of explicit6shear site (AG) place, A genetic loci happened G mutations.For the further study of the nature and significance of this mutation.This experiment selected two clinical phenotype similar autosomal dominant congenital cataract families, to screening the two autosomal dominant congenital cataract families and the relationship with the mutation.Objective Screening the gene of CRYBB1crystallin exon6splice site (AG) occurring the mutation of G→A, analysis to judge the mutation of G→A is a episodic point mutation or polymorphisms of gene mutations.Methods The gene of CRYBB1crystallin exon6splice site (AG) ocurred G→A gene mutation, according the mutation to design polymerase chain reaction-sequence specific primers (PCR-SSP), and according the amplified products of the electrophoresis results to screening of the mutation in2congenital cataract pedigreesResults The results of this experimental study of all subjects of CRYBB1crystal protein gene exon6splice site (AG) are all not G→A gene mutation, and the genotypes are homozygous GG type.Conclusion The mutation of CRYBB1crystallin gene exon6splice site (AG) occurring the G→A mutation is a sporadic point mutation, not mutation polymorphism. The method of PCR-SSP is a reliable and effective in a population screening gene point mutation and is a feasibility method.