西北地区751例新生儿耳聋基因突变筛查  

Mutation screening of 751 neonatal hereditary deafness in northwest district

作　　者：杨晓 彭薇 马宁[1] 李昊[1] 张艳平 Yang Xiao;Peng Wei;Ma Ning;Li Hao;Zhang Yanping(National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology Beijing Key Laboratory of Pediatric Organ Failure,Bayi Children’s Hospital,the Seventh Medical Center of PLA General Hospital,Beijing 100700,China)

机构地区：[1]解放军总医院第七医学中心八一儿童医院/出生缺陷防控关键技术国家工程实验室/儿童器官功能衰竭北京市重点实验室,北京100700

出　　处：《发育医学电子杂志》2020年第2期140-144,共5页Journal of Developmental Medicine (Electronic Version)

基　　金：国家重点研发计划(2018YFC1002701)。

摘　　要：目的初步了解西北地区新生儿常见耳聋基因突变类型和携带率,探讨耳聋基因突变筛查对于辅助诊断和防治新生儿遗传性耳聋的临床价值。方法采集西北地区751例新生儿的足跟血,采用15项遗传性耳聋基因检测试剂盒(微阵列芯片法)对中国人群常见4种耳聋基因15个突变位点进行筛查。结果在751例新生儿中,检测到39例新生儿携带耳聋基因突变,总突变携带率为5.18%。其中GJB2基因突变19例,突变携带率为2.53%;SLC26A4基因突变16例,突变携带率为2.12%;线粒体12SrRNA 1555A>G均质突变4例,突变携带率为0.53%。新疆出生的新生儿279例中,检测到耳聋基因突变11例,突变携带率3.95%;甘肃省出生的新生儿277例中,检测到耳聋基因突变12例,突变携带率4.32%;陕西省出生的新生儿178例中,检测到耳聋基因突变12例,突变携带率6.74%;青海省出生的新生儿17例中,检测到耳聋基因突变4例,突变携带率23.52%。结论西北地区新生儿耳聋基因突变携带率偏高,但是GJB2基因235 del C位点的突变携带率偏低,可能与西北地区的地域特征和人口遗传学特点有关。新生儿耳聋基因筛查对于听力筛查具有很好的互补作用,可以从基因水平发现可能出现迟发性耳聋和药物敏感性耳聋的高危新生儿。Objective To study the carrier rate and mutation type of deafness susceptibility gene in northwest district and to explore the clinical value of deafness gene screening in early diagnosis and control of neonatal hereditary deafness. Methods The heel blood of 751 neonates was collected in northwest district. Fifteen Deafness-Related Gene Mutations Detection Kit(microarray chip) were used to screen 4 common deafness gene mutations and 15 mutation sites in Chinese people. Results In 751 neonates, 39 cases(5.18%) had deafness gene mutations. They included 19 cases(2.53%) with GJB2 mutations, 16 cases(2.12%)with SLC26 A4 mutations, 4 cases(0.53%)with mtDNA 12 SrRNA gene mutations. Among the 279 newborns born in Xinjiang, 11 cases were found to have mutations in the deafness gene, with a mutation carrying rate of 3.95%. Among 277 newborns born in Gansu province, 12 cases of deafness gene mutation were detected, with a mutation carrying rate of 4.32%. Among 178 newborns born in Shanxi province, 12 cases of deafness gene mutation were detected, with a mutation carrying rate of 6.74%. Among the 17 neonates born in Qinghai province, 4 cases of deafness gene mutation were detected, with a mutation carrying rate of 23.52%. Conclusions The carrier rate of deafness gene is higher but the carrier rate of GJB2 235 del C is lower in northwest district. The mutation carrying rate of neonatal deafness in northwest China is high, but the mutation carrying rate of GJB2 235 del C is low, which may be related to the regional characteristics and population genetic characteristics of northwest China. Neonatal deafness gene screening for hearing screening has perfect complementary role, which can help to found late-onset deafness and drug sensitivity of deafness high-risk neonates can be found from the level of gene.

关 键 词：新生儿 遗传性耳聋 基因芯片 突变筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]