摘要
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.
作者
邸文治
陈艳华
郭连皓
宋映雪
张瀚文
程鸿瑜
DI Wen-zhi(Cangzhou Maternal and Child Health Care Hospital,Cangzhou 061000,Hebei)
出处
《中国优生与遗传杂志》
2020年第9期1122-1125,共4页
Chinese Journal of Birth Health & Heredity
关键词
沧州地区
新生儿
遗传性耳聋
突变率
Cangzhou area
Newborn
Hereditary deafness
Mutation rate