Testing Analysis Of Deafness Genes For The Nonsyndromic Hearing Impairment Patients In Shanxi Province

Objective:Disease genes are screened by three kinds of testing technologies for thenonsyndrome type deafness patients to count for common gene mutations rate and look for new disease genes,which can provide evidencefor prenatal diagnosis of disease, early screening and treatment,at the same time also for the diagnosis of deafness gene provide more rapid,simple and sensitive methods.Methods:300 blood samples were collected from different regional schools for the deaf in Shanxi province, ages between 8 to 23 years old.Inclusion criteria: in addition to the hearing loss is not accompanied by other symptoms. Database were established basing on clinical symptoms and testing results.Blood samples werecollected after signingthe consent procedure by patients themselves or guardian.Thesesamples were detected by matrix-assisted laser desorption ionization of flight mass spectrometry to screen the common causative genes and its mutant sites and count for common gene mutation rate. 10 cases selected in which did not found mutations were detected by Gene trapping + the second generation sequencing to screen new disease genes,and designed the corresponding primers,The remaining samples were testedbysequencing to look for pathogenic mutations,with 100 cases of normal specimens for comparison.Results:1 300 cases were detected by matrix-assisted laser desorption ionization of flight massspectrometry,in which 152 cases were found mutations.2 In the remainingcases,10 cases were detected by Gene trapping + the second generation sequencing; Mutations were identified in TRIOBP gene in three cases, and in TPRN gene in 2 cases.3 Based the finding on the above two genes, the primerswere designed and the remainingcases were detected by Sanger sequencing, One hundrend and thirty three patients were positive for mutation c. 3559 T > C(p.F1187I), and 11 cases with c. 3070 c > CA(p. p 1024 T) mutations of TRIOBP genes, through the verification of the normal controls, c. 3559 T > CT may be SNP loci, and c. 3070 C> A(p. P1024 T) of TRIOBP genes. Population study showed that the c. 3559 T > C mutation may be a SNP. The c.3070 C> A was not detected in the normal control group. Whether this mutation is the pathogenic site, remains to be further validation. There was no mutation detected further in TPRN gene.Conclusion:1 GJB2, SLC26A4, GJB3, and mitochondrial DNA genes are the main pathogenic genes in Shanxi Province, but the spectrum of mutations is obviously different from that in the rest of the country.2 TRIOBP and TPRN genes may be related to the NSHL.3 Matrix assisted laser desorption ionization time of flight mass spectrometry and gene capture + the second generation sequencing are two methods that is rapid, simple and sensitive to diagnose deafness.