A study on the detection rate of deafness predisposing genes among newborns / 预防医学

ABSTRACT

Objective To learn the detection rate of deafness predisposing genes among newborns in order to provide suggestions for the prevention of hereditary hearing loss.Methods By means of MALDI -TOF,a total of 4 025 newborns were accepted for newborn hearing and deafness predisposing genetic screening.Four common deafness predisposing genes including GJB2,GJB3,12SrRNA and SLC26A4 were detected,which included 20 hot mutation sites.Results Of the 4 025 subjects,231 were detected with deafness predisposing genes and the positive rate was 5.71%.The total rate of pathogenic mutation was 1.74‰(7 /4 025),including 1 with GJB2 235delC homozygous mutation,1 with GJB2 235delC heterozygous mutation plus 299_300 del AT heterozygous mutation and 5 with 12SrRNA homozygous mutation.The positive rate of single heterozygous mutation was 5.54% (223 /4 025).Fourteen hot mutation sites were detected.GJB2 235delC was the most common one,followed by IVS7 -2A→G.There were 109 cases with GJB2 235delC and 50 cases with IVS7-2A→G.The positive rate was 2.71% and 1.24% respectively,which was 47.19% and 21.65% of the total detection rate respectively.Conclusion The detection rate of deafness predisposing genes is high among newborns.Expanding screening sites could facilitate the detection for the carrier of deafness gene.