遗传性耳聋基因筛查对迟发性耳聋的预防作用分析
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摘要
目的:探讨遗传性耳聋基因筛查对迟发性耳聋的预防作用。方法:选取2015年1月-2017年3月在本院出生的新生儿5 547例,采集其足跟末梢静脉血,提取DNA,采用耳聋基因芯片技术检测4个耳聋基因(GJB2、GJB3、SLC26A4、12Sr RNA)的9个突变位点,同时进行听力筛查。结果:5 547例受检新生儿中耳聋基因异常者228例,其中GJB2基因杂合突变3.10%(172/5 547);GJB3基因杂合突变0.13%(7/5 547);SLC26A4基因杂合突变0.54%(30/5 547);线粒体12Sr RNA突变0.27%(15/5 547);双杂合突变0.05%(3/5 547),其中299 del AT和2168 A>G 1例,235 del C和538 C>T 2例;176 del 16纯合突变0.02%(1/5 547)。听力筛查检测通过的5 363例新生儿中,耳聋基因检测异常0.88%(47/5 363)。结论:遗传性耳聋基因筛查有利于迟发性耳聋的及早发现及干预,弥补了单独进行新生儿听力筛查所存在的不足,具有良好的临床应用价值。
Objective:To investigate the preventive effect of gene screening for genetic deafness in patients with delayed deafness.Method:A total of 5 547 newborns born in our hospital from January 2015 to March 2017 were selected,and their heel vein blood were collected,DNA was extracted,9 mutation sites of 4 deaf genes(GJB2,GJB3,SLC26A4 and 12 SrRNA) were detected by deafness gene chip technology,and hearing screening was performed at the same time.Result:Of the 5 547 newborns,there were 228 cases of deafness gene abnormalities,the GJB2 gene heterozygous mutation was 3.10%(172/5 547);GJB3 gene heterozygous mutation was 0.13%(7/5 547);SLC26A4 gene heterozygous mutation was 0.54%(30/5 547);mitochondrial 12 Sr RNA mutation was 0.27%(15/5 547);double heterozygous mutation was 0.05%(3/5 547),included 1 case of 299 del AT and 2168 A>G,2 cases of 235 del C and 538 C>T;176 del 16 homozygous mutation was 0.02%(1/5 547).Of the 5 363 newborns passing through the hearing screening test,the abnormal detection of deafness gene was 0.88%(47/5 363).Conclusion:Genetic deafness gene screening is conducive to early detection and intervention of delayed deafness,which makes up for the shortcomings of neonatal hearing screening alone,and has good clinical application value.
Objective:To investigate the preventive effect of gene screening for genetic deafness in patients with delayed deafness.Method:A total of 5 547 newborns born in our hospital from January 2015 to March 2017 were selected,and their heel vein blood were collected,DNA was extracted,9 mutation sites of 4 deaf genes(GJB2,GJB3,SLC26A4 and 12 SrRNA) were detected by deafness gene chip technology,and hearing screening was performed at the same time.Result:Of the 5 547 newborns,there were 228 cases of deafness gene abnormalities,the GJB2 gene heterozygous mutation was 3.10%(172/5 547);GJB3 gene heterozygous mutation was 0.13%(7/5 547);SLC26A4 gene heterozygous mutation was 0.54%(30/5 547);mitochondrial 12 Sr RNA mutation was 0.27%(15/5 547);double heterozygous mutation was 0.05%(3/5 547),included 1 case of 299 del AT and 2168 A>G,2 cases of 235 del C and 538 C>T;176 del 16 homozygous mutation was 0.02%(1/5 547).Of the 5 363 newborns passing through the hearing screening test,the abnormal detection of deafness gene was 0.88%(47/5 363).Conclusion:Genetic deafness gene screening is conducive to early detection and intervention of delayed deafness,which makes up for the shortcomings of neonatal hearing screening alone,and has good clinical application value.
引文
[1]王旭东,洪拥军,陈艺文,等.厦门地区遗传性耳聋流行病学调查[J].中华耳科学杂志,2016,14(6):753-758.
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[4]潘蕾,刘宏彦,刘瑾,等.天津市81929例新生儿听力和聋病易感基因联合筛查情况分析[J].中国妇幼保健,2016,31(4):754-756.
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[9]牛志杰,冯永,梅凌云,等.非综合征型X连锁隐性遗传耳聋家系临床表型及遗传学特征分析[J].中华耳科学杂志,2017,15(2):195-200.
[10]张艳,卞颖华,许鹏飞,等.应用基因芯片技术检测非综合征型耳聋基因突变[J].生物技术通讯,2010,21(1):22-26.
[11]苏宁,杨丽,刘娟,等.基因芯片技术的国内应用研究进展[J].生物技术通讯,2016,27(2):289-292.
[12]戴朴,刘新,于飞,等.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235del C和线粒体DNA12Sr RNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.
[13]忻蓉,顾春健,娄志武,等.湖州地区1814例新生儿耳聋基因筛查及突变位点分析[J].浙江医学,2015,37(20):1661-1663.
[14]左路杰,张勋,袁永一,等.北京地区耳聋残疾人群大前庭水管相关SLC26A4基因热点突变分子流行病学调查[J].中华耳科学杂志,2012,10(2):237-240.
[15]陈方方,郭紫芬,轩贵平.线粒体12Sr RNA突变与耳聋相关性研究进展[J].中国抗生素杂志,2015,40(3):228-233.
[16]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 r RNA突变的流行病学特征[J].中华耳科学杂志,2006,4(2):98-105.
[17]Skou A S,Tranebj?rg L,Jensen T,et al.Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure[J].J Pediatr,2014,164(2):413-415.
[18]张笑千,王睿,刘畅,等.SLC26A4基因突变所致遗传性耳聋患者突变类型研究[J].中国全科医学,2016,19(8):979-981.
[19]Hilgert N,Smith R J,Van C G.Forty-six genes causing nonsyndromic hearing impairment:which ones should be analyzed in DNA diagnostics?[J].Mutat Res,2009,681(2-3):189-196.
[20]窦艳斌,赵艳萍.SLC26A4基因突变致聋患者的临床表现与康复措施探讨[J].双足与保健,2017,26(8):38-39.
[2]韩东一.中国聋病防治现状[J].中华耳科学杂志,2007,5(4):345-349.
[3]张晚霞,孙慧红,马丽霞,等.30835例新生儿听力和基因联合筛查实践研究[J].中华耳科学杂志,2016,14(6):769-773.
[4]潘蕾,刘宏彦,刘瑾,等.天津市81929例新生儿听力和聋病易感基因联合筛查情况分析[J].中国妇幼保健,2016,31(4):754-756.
[5]Kim B G,Shin J W,Park H J,et al.Limitations of hearing screening in newborns with PDS mutations[J].Int J Pediatr Otorhinolaryngol,2013,77(5):833-837.
[6]Norris V W,Arnos K S,Hanks W D,et al.Does universal newborn hearing screening identify all children with GJB2(Connexin 26)deafness?Penetrance of GJB2 deafness[J].Ear Hear,2006,27(6):732-741.
[7]袁永一,黄德亮,戴朴,等.中国非综合征遗传性聋人群GJB6基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2007,21(1):3-6.
[8]李庆忠,王秋菊,赵立东,等.国人非综合征型遗传性聋患者GJB3基因突变分析[J].听力学及言语疾病杂志,2005,13(3):145-148.
[9]牛志杰,冯永,梅凌云,等.非综合征型X连锁隐性遗传耳聋家系临床表型及遗传学特征分析[J].中华耳科学杂志,2017,15(2):195-200.
[10]张艳,卞颖华,许鹏飞,等.应用基因芯片技术检测非综合征型耳聋基因突变[J].生物技术通讯,2010,21(1):22-26.
[11]苏宁,杨丽,刘娟,等.基因芯片技术的国内应用研究进展[J].生物技术通讯,2016,27(2):289-292.
[12]戴朴,刘新,于飞,等.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235del C和线粒体DNA12Sr RNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.
[13]忻蓉,顾春健,娄志武,等.湖州地区1814例新生儿耳聋基因筛查及突变位点分析[J].浙江医学,2015,37(20):1661-1663.
[14]左路杰,张勋,袁永一,等.北京地区耳聋残疾人群大前庭水管相关SLC26A4基因热点突变分子流行病学调查[J].中华耳科学杂志,2012,10(2):237-240.
[15]陈方方,郭紫芬,轩贵平.线粒体12Sr RNA突变与耳聋相关性研究进展[J].中国抗生素杂志,2015,40(3):228-233.
[16]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 r RNA突变的流行病学特征[J].中华耳科学杂志,2006,4(2):98-105.
[17]Skou A S,Tranebj?rg L,Jensen T,et al.Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure[J].J Pediatr,2014,164(2):413-415.
[18]张笑千,王睿,刘畅,等.SLC26A4基因突变所致遗传性耳聋患者突变类型研究[J].中国全科医学,2016,19(8):979-981.
[19]Hilgert N,Smith R J,Van C G.Forty-six genes causing nonsyndromic hearing impairment:which ones should be analyzed in DNA diagnostics?[J].Mutat Res,2009,681(2-3):189-196.
[20]窦艳斌,赵艳萍.SLC26A4基因突变致聋患者的临床表现与康复措施探讨[J].双足与保健,2017,26(8):38-39.