沧州地区1080例新生儿耳聋基因筛查结果分析

Analysis of deafness gene screening results of 1080 newborns in Cangzhou area

目的通过对沧州地区新生儿进行十五项耳聋基因检测,了解沧州地区新生儿耳聋基因携带情况。方法采集2019年1月至2019年12月于沧州市妇幼保健院出生的1080例新生儿足跟血血片,进行耳聋基因相关检测,包括4个基因15个位点。结果共检测出110例致聋基因突变患儿,突变率为10.19%。GJB2基因突变的携带频率为5.49%,GJB3基因突变的携带频率为0.74%,SLC26A4基因突变的携带频率为4.91%,MT-RNR1基因突变的携带频率为0.56%。四个基因在人群中携带率有统计学差异(P<0.001)。沧州地区四个耳聋基因突变率与南宁、济宁、武威、宁波和珠海地区携带率相比,有统计学差异(P<0.001)。结论沧州地区致聋基因突变率高于全国平均水平,有其特异性。新生儿家属应加强耳聋基因筛查意识,以便临床医师早诊断、早干预,降低耳聋的发生率。

Objective:By testing fifteen deafness gene on newborns in Cangzhou area,we can understand the carrying status of deafness genes in newborns in Cangzhou area.Methods:1080 newborns born in Cangzhou Maternal and Child Health Hospital were collected heel blood from January 2019 to December 2019.Those blood samples were tested for deafness genes,including 4 genes and 15 loci.Results:A total of 110 children with mutations in deaf genes were detected,and the mutation rate was 10.19%.The frequency of GJB2 gene mutation is 5.49%,the frequency of GJB3 gene mutation is 0.74%,the frequency of SLC26A4 gene mutation is 4.91%,and the frequency of MT-RNR1 gene mutation is 0.56%.The carrying rate of the four genes in the population was statistically different(P<0.001).The mutation rates of the four deafness genes in Cangzhou area were statistically different from those in Nanning,Jining,Wuwei,Ningbo and Zhuhai areas(P<0.001).Conclusion:The mutation rate of deafness genes in Cangzhou area is higher than the national average and has its specificity.Family members of newborns should strengthen the awareness of deafness gene screening so that clinicians can diagnose and intervene early to reduce the incidence of deafness.