佛山市10238例新生儿听力与耳聋易感基因联合筛查分析  

An Analysis of Newborn Hearing Concurrent Genetic Screening Results

作　　者：李振安[1] 梁淑贞[1] 余凤慈[1] 贺汤菁 刘芸[1] 何清泉[1] 

机构地区：[1]佛山市妇幼保健院听力中心

出　　处：《听力学及言语疾病杂志》2014年第6期585-588,共4页Journal of Audiology and Speech Pathology

摘　　要：目的分析新生儿听力与耳聋易感基因联合筛查的结果,探讨基因筛查的意义和基因型与表型的潜在联系。方法对2012年5月至2013年12月在佛山市出生的10 238例新生儿采用AABR进行听力初筛和复筛,并采集足跟血行耳聋易感基因突变热点检测,对听力筛查结果和耳聋易感基因检测结果进行统计学对比分析。结果 10 238例新生儿听力初筛通过率99.16%(10 150/10 238),母婴同室新生儿(99.43%,9 242/9 295)比NICU新生儿(96.29%,908/943)听力初筛通过率高,差异有统计学意义(χ2=99.1,P<0.001),而两组新生儿听力复筛通过率差异无统计学意义(χ2=0.26,P=0.61)。听力筛查阳性者中确诊听力损失者11例(1.07‰,11/10238),均为双耳中度到极重度听力损失。新生儿基因突变阳性率3.08%(315/10 238),高于听力初筛的未通过率(0.84%)(χ2=123.9,P<0.001)。其中,GJB2c.235delC杂合突变165例,纯合缺失4例;c.299_300delAT杂合突变20例;c.176_191del16杂合突变6例;未检测到c.35delG位点突变。SLC26A4c.919-2A>G杂合突变82例,纯合突变3例;c.2168A>G杂合突变12例。MTRNR1 1555A>G异质性突变4例,同质性突变18例;1494C>T同质性突变1例。GJB2c.235delC和SLC26A4c.919-2A>G突变的新生儿中8例在出生25个月内确诊为中度到极重度感音神经性聋。结论新生儿耳聋易感基因筛查是对传统新生儿听力筛查的必要补充,有利于早期发现耳聋高危人群,预警潜在或迟发性耳聋的发生与及早干预。Objective To analyze clinical results of newborn hearing concurrent genetic screening and to ex-plore the significance of genetic test and potential correlations between the genotype and clinical phenotype.Methods Newborns in Foshan born during May,2012 and September,2013 were recruited.Two-step hearing screening was carried out by using AABR （automated auditory brainstem response）.Blood samples were collected with a standard protocol for testing hot-spot mutations of common deafness-susceptibility genes.ResuIts A total of 10 238 newborns,including 9 295 rooming-in infants and 943 NICU infants,received hearing screening and 99.16%of passed the initial screening.The passing rates of rooming-in and NICU infants were significantly different （χ^2=99.1,P＆lt;0.001）,but the difference was not significant in the secondary screening （χ^2=0.26,P=0.61）.Three hundred and fifteen out of 10 238 （3.08%）newborns who underwent genetic testing were found to have one or two allele mutations of deafness-susceptibility genes,and the positive rate of genetic screening was significantly higher than the referring rate of initial hearing screening （χ^2=123.9,P＆lt;0.001）.Newborns with gene mutations had high-er referring rate of hearing screening than the general population （χ^2=72.4,P＆lt;0.001）.GJB2 c.235delC heterozygous＆amp;nbsp;mutation frequency was 1.61% （165/10 238）,while the homozygous mutation frequency was 0.04% （4/10 238）;c.299 300delAT heterozygous mutation frequency was 0.20% （20/10 238）;c.176 191del16 heterozygous mutation frequency was 0.06% （6/10 238）;no c.35delG mutation was detected.SLC26A4 c.919-2A＆gt;G heterozygous mu-tation frequency was 0.80% （82/10 238）and the homozygous mutation frequency was 0.03% （3/10 238）;c.2168A＆gt;G heterozygous mutation frequency was 0.12% （12/10 238）.MTRNR1 1555A＆gt;G heteroplasmic mutation fre-quency was 0.04% （4/10 238）while the homoplasmic mutation frequency was 0.18% （18/10 238）.1494C＆gt;T ho-moplasmic mutat

关 键 词：新生儿听力筛查 基因筛查 联合筛查 

分 类 号：R722.19[医药卫生—儿科] R764.43[医药卫生—临床医学]