关键词: 基因, 分子流行病学, 新生儿, 聋病

Abstract: Objective To explore the features of molecular epidemiology of deafness predisposing genes and to provide a basis for optimizing the strategy for pre-deaf through universal newborn genetic screening. Methods A total of 1 902 newborns were taken blood spot at heel in 3~5 days and accepted deafness predisposing genes screening.All samples performed the polymerase chain reaction (PCR)for screening GJB2 and the mitochondrial 12SrRNA as well as SLC26A4 gene mutations.Eight mutations of three genes(GJB2 35delG, 176-191del 16, 235delC and 299-300delAT, SLC26A4 IVS7-2A>G and 2168A>G , 12S rRNA 1494C >T and 1555A >G)were detected by matrix assister laser desorption/ionization time-of-flight mass spectrometry ( MALDI-TOF-MS ).The features of molecular epidemiology of deafness predisposing genes mutations in newborns were studied. Results The deafness predisposing genes screening showed there were 50 carriers in the 1 902 infants.The overall carrier frequency of five mutations of three genes was 2.63%, with 2.90% in males and 2.35% in females.3.51% in Chancheng district, 3.31% in Nanhai district and 3.10% in Shunde district.In different maternal age groups, the carrier frequency was 2.48%, 2.72% and 2.94% respectively.No infant was GJB2 35delG, 176-191del or 12S rRNA 1494C>T carrier, while all carriers of deafness predisposing genes passed the hearing screening. Conclusions The features of molecular epidemiology of deafness predisposing genes in Foshan revealed that there was no apparent difference in gender ratio, regional distribution and maternal age.Hearing concurrent genetic screening can find neonates with late-onset hearing impairment promptly and provide prognostic information for early treatment, which is significant for the optimization of the strategy for pre-deaf.

Key words: deafness, gene, molecular epidemiology, newborn