ABSTRACT
Objective To use the matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) technique for detecting the mutation gene of neonatal non-syndromic hereditary hearing impairment gene in Guangxi and to investigate its effectiveness and feasibility in clinical application.Methods A total of 7 100 newborns were performed the hearing preliminary screening and secondary screening by adopting AABR.The genomic DNA was extracted by the heel blood spot.Twenty mutation characteristics of 4 deaf predisposing genes were detected by MALDI-TOF-MS.Results The pass rate of hearing screening in 7 100 newborns was 97.11％ (6 895/7 100),the positive rate of neonatal gene mutation was 3.54％ (251/7 100),in which the GJB2 gene mutation was in 131 cases,the carrying rate was 1.84％,235delC heterozygous mutation was in 108 cases.SLC26A4 gene mutation was in 93 cases,which dominated by 1229C＞T heterozygous mutation and IVS7-2A＞G heterozygous mutation,mtDNA12SRNA gene mutation was in 16 cases and GJB3 gene mutation was in 11 cases.Conclusion Adopting the MALDI-TOF-MS screening technique can increase the detection rate of hot point mutation in common deaf related genes and discover neonatal genetic NSHI from molecular level and provides the corresponding geneticconsulting guidance for early finding and predicting deaf occurrence,and formulating the interventional measures.