Analysis Of Genetic Screening Of Mutations In Patients With Sensorineural Hearing Loss In YanBian Area

ObjectiveThrough genetic testing in patients with sensorineural hearing loss,analyzing the mutation frequency and spectrum of deafness gene and providing an accurate diagnosis and genetic counseling for patients with hearing loss in Yanbian area.MethodsPeripheral blood samples were obtained from 20 probands and their relatives with hearing loss or normal hearing,overall 62 persons.Among the probands eight of them are Chinese Korean and twelve are Chinese han.Twelve male and eight female.Profound and severe profound sensorineural hearing loss are 10 cases,respectively.The deafness gene mutations were screening use the ClaSeek Ligation Max(DNA gene Kit).Sanger sequencing was used to verify the source of deafness gene.Results1.Mutations in the 20 probands,SLC26A4 mutations were detected in 9 probands 45%,9/20),including c.919-2A>G(IVS7-2A>G)homozygosis(n=1);and compound heterozygous mutations(n=8).There was one SCL26A4 compound heterozygous mutation with GJB2 mutation.GJB2 mutation was detected in 5 probands,including 235delC homozygosis(n=1),compound heterozygous mutations(n=3),GJB2 235delC single heterozygous mutation(n=1).OTOF mutations were detected in 2 probands,including c.3679C>T/c.3408+1G>A,c.3910-3912del/c.1961G>A compound heterozygous(n=2).The others including LARS2 c.527C>G/c.1193T>C compound heterozygous mutation(n=1);DSPP c.1031C>A?MYH9 c.5188C>T?MY07A c.1094A>G?TECTA c.1256A>G heterozygous mutation(n=1);USH2A c.15095G>A/c.9813G>A compound heterozygous mutation(n=1);DIAPH3 c.2084-2088del/MYH14 c.2545 G>A/c.3068C>T compound heterozygous(n=1).2.SLC26A4 mutation was detected in 37.5%(3/8)of Korean Chinese probands and 50.0%(6/12)of Han Chinese probands(P>0.05),respectively.There was no significant frequency difference of SLC26A4 gene between the two nations.GJB2 mutation was detected in 41.6%(5/12)of Han Chinese patients,GJB2 was not found in Korean Chinese.Conclusion1.The GJB2 and SLC26A4 genes are primary causative genes in our study,the hot spot mutation of GJB2 and SLC26A4 is c.235delC and c.919-2A>G,respectively.2.There was no significant difference of the SLC26A4 mutation rate between the Korean Chinese and Han Chinese patients in our study.The hot spot of Han Chinese and Korean Chinese is c.919-2A>G and c.2168A>G,respectively.