听力初筛未通过新生儿常见聋病易感基因检测结果分析

中国儿童保健杂志 ›› 2014, Vol. 22 ›› Issue (10): 1071-1072.

听力初筛未通过新生儿常见聋病易感基因检测结果分析

余红¹，杨晶群¹，刘丹¹，吴志强²

1 绍兴市妇幼保健院，浙江绍兴 312000；
2 杭州华大基因研究中心，浙江杭州 310003

收稿日期:2014-01-14 发布日期:2014-10-10 出版日期:2014-10-10
作者简介:余红(1967-)，女，浙江人，儿保科长，主任医师，学士学位，主要从事儿童保健工作。
基金资助:
浙江省公益性技术应用研究计划项目(2013C33213)

Results analysis of the common deafness spredisposing genes testing for newborns failed the first hearing screening

YU Hong¹,YANG Jing-qun¹,LIU Dan¹,WU Zhi-qiang²

1 Department of Children's Health Care,Maternal and Child Health Care Hospital,Shaoxing,Zhejiang 312000,China;
2 Research Department of BGI-Hangzhou,Hangzhou,Zhejiang 310003,China

Received:2014-01-14 Online:2014-10-10 Published:2014-10-10

摘要/Abstract

摘要： 目的对听力初筛未通过的新生儿进行聋病易感基因筛查，探讨新生儿听力联合基因筛查的意义。方法应用飞行时间质谱技术，对622例听力初筛未通过新生儿进行GJB2、GJB3、线粒体12SrRNA 、SLC26A4 4种常见耳聋易感基因的检测，检测位点包含了以上基因的20 个热点突变位点。结果 622例听力初筛未通过新生儿中，检出耳聋基因突变48例，阳性率7.72%。其中GJB2突变 32例，占总检出率的66.67%，SLC26A4突变11例，占22.91%，GJB3 突变5例，占10.42%，GJB2基因突变检出率明显高于SLC26A4突变和GJB3 突变(χ²=25.767，P<0.01)，未检测到线粒体 DNA 基因1494C>T 和 1555A>G 突变。确诊听力损失7例，其中3例耳聋基因检测阳性，分别为GJB2 235delC纯合突变、GJB2 235delC杂合突变和GJB3 538C→T杂合突变。结论听力初筛未通过新生儿聋病基因阳性率较高，可作为目标人群进行耳聋易感基因筛查，新生儿听力联合耳聋易感基因筛查，有助早期发现听力损失病因，早期确诊并干预。

关键词: 听力筛查, 耳聋基因, 突变, 听力损失

Abstract: Objective To investigat the clinic significance of universal newborn hearing screening combined with testing deafness predisposing genes. Method The spredisposing genes of GJB2,GJB3,12S rRNA,SLC26A4 including the 20 hot spot mutations for 622 newborns who did not pass the first hearing screening were detected by MALDI-TOF. Result Among the 622 subjects,48 cases were found with deafness gene mutations.The positive rate was 7.72%.32 cases of the positive ones were with GJB2 mutations,11 cases were with SLC26A4 mutations and 5 cases were with GJB3 mutations.The relevence ratios were 66.67%,22.91% and 10.42% respectively.The rate of GJB2 mutation was obviously higher than SLC26A4 and GJB3 mutation (χ²=25.767,P<0.01).And no 12S rRNA (1494C>T and 1555A>G) mutations were found.7 cases were diagnosed with hearing loss and 3 of them were GJB2 235delC homozygous mutation,GJB2 235delC heterozygous mutation and GJB3 538C→T heterozygous mutation respectively. Conclusions The newborns who did not pass the first hearing screening have high positive rate of deafness genes,they can be the target population for testing the deafness predisposing genes.The strategy combined deafness predisposing genes testing with the routine hearing screening can be helpful to find out the causes of hearing loss early,also can make the diagnosis and intervention earlier.

Key words: hearing screening, deafness gene, mutation, hearing loss

中图分类号:

R722.1

余红，杨晶群，刘丹，吴志强. 听力初筛未通过新生儿常见聋病易感基因检测结果分析[J]. 中国儿童保健杂志, 2014, 22(10): 1071-1072.

YU Hong,YANG Jing-qun,LIU Dan,WU Zhi-qiang. Results analysis of the common deafness spredisposing genes testing for newborns failed the first hearing screening[J]. journal1, 2014, 22(10): 1071-1072.

参考文献

[1] 戴朴.遗传性耳聋的预防和阻断[J].中华医学杂志,2007,87(40):13-15.
[2] Pet it C.Memorial lecture-heredit ary s ens ory def ect s:Fromgenes t o path ogenesis[J].Am J Med Genet,2004,130(A):3-10.
[3] 王秋菊,赵亚丽,兰兰,等.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42(1):809-813.
[4] 王秋菊.新生儿聋病易感基因筛查的意义与策略[J].中国医学文摘·耳鼻咽喉科学,2007,22(1):20-22.
[5] 袁永一,黄德亮,戴朴,等.赤峰市特教学校耳聋患者GJB2 和GJB3 及GJB6 基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2008,22(1):14-21.
[6] 周佳霖,历建强,罗仁忠,等.听力复筛未通过的新生儿常见聋病易感基因筛查结果分析[J].听力学及言语疾病杂志,2011,19(1):14-17.
[7] 孙勍,袁慧军,刘新,等.中国常染色体显性遗传非综合征型耳聋人群缝隙连接蛋白31基因突变分析[J],中国耳鼻咽喉头颈外科,2008,15(11):625-627.
[8] 戴朴,韩东一,冯勃,等.大前庭水管的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科杂志,2006,13(5):303-307.
[9] 孙莉莉,张丽,柳爱华.耳聋基因诊断及其在遗传性耳聋预防和阻断中的应用研究[J].中国产前诊断杂志:电子版,2011,3(2):32-36.
[10] 管敏鑫,赵立东.与氨基糖甙类抗生素耳毒性相关的线粒体12S rRNA 突变的流行病学特征[J].中华耳科学杂志,2006,4(1):98-105.
[11] 郭玉芬,徐百成,韩东一,等.中国西北地区线粒体DNA12SrRNAA1555G 和GJB2 基因突变[J].中国耳鼻咽喉头颈外科,2006,13(10):666-669.
[12] 李隽,历建强,王智楠,等.678 例新生儿听力和聋病易感基因联合筛查结果分析[J].听力学及言语疾病杂志,2010,18(5):419-422.
[13] 杜琨,陈泉东,李杨方,等.昆明地区新生儿听力及聋病易感基因联合筛查[J].昆明医科大学学报,2013,34(6):104-106.
[14] Den Dunnen JT,Antonarakis SE.Nomenclature for the description of human sequence variations[J].Hum Genet,2001,109(1):121-124.
[15] Antonarakis SE.Recommendations for a nomenclature system for human gene mutations[J].Hum Mutat,1998,11(1):1-3.