Exon Sequencing Analysis Of ATP7B Gene

AimTo investigate the WD Gene mutation spectrum.MethodTo analyze retrospectively74cases of WD gene exon mutations sequencing which are to confirm or exclude WD.Results1.In74cases of voluntary WD gene exon patients, homozygous or compound heterozygous mutations were detected in37cases, heterozygous mutation in12cases, no mutation was detected in25cases,40mutations were detected,20mutations in the database which was retrieved by HGMD,8reported in various publications in recent years,12mutations have never reported,14polymorphic loci. In12patients, we detected the exon8high linkage sequence which was the C.2310C> to G (p.L770L) and c.2333G>A(p.R778Q).2.p.Arg778Leu mutant allele frequency for21.84%and p.Pro992Leu mutant allele frequency for18.39%are the two most common mutations in our population,and the most common mutations in exon8,13,12and16account for67.98%of the alleles.Conclusion1.Considering the exon WD high cost of genetic testing, the mutant allele frequency of p.Arg778Leu and p.Pro992Leu is relatively high, the same as in exon8,13,12and16sites, so we can make them a priority.2. Our study found12mutations which have never been reported, they expand the WD gene mutation spectrum. So, it is necessary to make exon sequencing.