【摘要】 目的了解江门地区新生儿常见耳聋基因突变类型和携带率,建立有效的新生儿听力筛查与耳聋基因联合筛查体系。方法选择2016年6月至2018年2月江门市妇幼保健院和开平市妇幼保健院出生的13 725例新生儿,利用诱发耳声发射和自动判别听性脑干电位进行听力筛查,利用PCR反向斑点杂交检测GJB2、GJB3、SLC26A4和线粒体DNA 12S rRNA基因16个突变位点。结果13 725例新生儿听力筛查通过率99.03%(13 592/13 725),未通过率为0.97%(133/13 725),筛查出耳聋基因阳性511例,阳性率为3.72%,其中GJB2基因突变242例(1.76%),SLC26A4基因突变210例(1.53%),线粒体DNA 12S r RNA基因突变29例(0.21%),GJB3基因突变26例(0.19%),发现双基因杂合突变2例,单基因复合杂合突变2例。共检出突变位点14个,检出率最高的为GJB2基因c.235del C突变215例(215/511,42.07%),其次是SLC26A4基因IVS7-2 A>G 137例(137/511,26.81%)。听力筛查联合耳聋基因筛查检测到阳性新生儿630例(4.59%),听力筛查未通过的133例新生儿中耳聋基因检测异常14例,497例新生儿为耳聋基因异常而听力筛查通过。结论江门地区新生儿遗传性耳聋GJB2及SLC26A4基因突变率高,开展新生儿听力筛查联合耳聋基因筛查有助于新生儿耳聋的早期诊断和防治。更多还原

【Abstract】 Objective To explore the types of mutations and the carrier rate of common deafness gene in newborns in Jiangmen area and establish an effective neonatal hearing combined deafness gene screening system. Methods From June 2016 to February 2018,a total of 13 725 newborns in Jiangmen Maternal and Children Health Hospital and Kaiping Maternal and Children Health Hospital were selected for hearing screening. Hearing otoacoustic emission and automatic discrimination of auditory brainstem potential were used for hearing screening. PCR Reverse dot blot hybridization was used to detect 16 mutation sites of GJB2,GJB3,SLC26 A4 and mt DNA 12 S r RNA genes. Results The acceptance rate of hearing screening in 13 725 newborns was 99.03%(13 592/13 725),and the failure rate was 0.97%(133/13 725). The deafness gene screen was used to detect 511 cases of deafness and the positive rate was 3.72%. Of these,242(1.76%)were GJB2 mutations,210(1.53%)were SLC26 A4 mutations,29(0.21%)were mt DNA 12 S r RNA gene mutations,and 26(0.19%)were GJB3 mutations. Two heterozygous mutations were found in 2 cases and 2 heterozygous mutations in single genes. A total of 14 mutation sites were detected. The highest detection rate was 215 cases(215/511,42.07%)of the c.235 del C mutation in the GJB2 gene,followed by the SLC26 A4 gene IVS7-2 A>G 137 cases(137/511,26.81%). Hearing screening combined with deafness gene screening test was 630 positive newborns(4.59%). 14 newborns with deafness gene mutation were detected in 133 newborns who did not pass hearing screening,497 cases passed the hearing screening and deafness gene mutation were detelted. Conclusions The rates of GJB2 and SLC26 A4 mutation in neonatal hereditary deafness is high in Jiangmen. Hearing newborn screening combined with deafness gene detection can help early diagnosis and control of neonatal deafness.更多还原