遗传性耳聋基因筛查在新生儿听力筛查中的应用价值探讨
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摘要
目的探讨遗传性耳聋基因筛查在新生儿听力障碍筛查中的使用价值。方法选取2016年3月-2017年11月本院出生的946例新生儿为研究对象,同时对新生儿进行听力初筛及遗传性耳聋基因筛查,分析和对比筛查结果。结果 946例新生儿中,共发现34例遗传性耳聋基因突变的携带病例,占总人数的3. 59%,其中GJB2耳聋基因突变12例、SLC26A4耳聋基因突变14例、GJB3耳聋基因突变2例、线粒体12S rRNA耳聋基因突变6例。5例在听力学评估后确诊为听力损失婴儿,听力初筛及遗传性耳聋基因筛查结果差异无统计学意义(P> 0. 05)。结论遗传性耳聋基因筛查技术是一种简单有效的新生儿听力功能筛查的技术,值得在临床上推广使用。
Objective To investigate the value of genetic screening for genetic deafness in screening newborns with hearing impairment. Methods A total of 946 newborns born in our hospital from March 2016 to November 2017 were selected as the study subjects. The newborn children were conducted for primary hearing screening and genetic deafness screening,and the results were compared and analyzed. Results Of the 946 newborns,34 cases carrying genetic deafness gene mutation were found,accounting for 3. 59%. Among them,12 cases carried GJB2 deafness gene mutation,14 cases carried SLC26 A4 deafness gene mutation,2 cases carried GJB3 deafness gene mutation and 6 cases carried mitochondria 12 S rRNA deafness gene mutation. 5 cases were diagnosed as hearing loss after audiological assessment. There was no statistical significance on the difference between the primary hearing screening results and the genetic screening results( P > 0. 05). Conclusion Hereditary deafness gene screening is a simple and effective screening method for neonatal hearing function,which is worth of promotion in clinic.
Objective To investigate the value of genetic screening for genetic deafness in screening newborns with hearing impairment. Methods A total of 946 newborns born in our hospital from March 2016 to November 2017 were selected as the study subjects. The newborn children were conducted for primary hearing screening and genetic deafness screening,and the results were compared and analyzed. Results Of the 946 newborns,34 cases carrying genetic deafness gene mutation were found,accounting for 3. 59%. Among them,12 cases carried GJB2 deafness gene mutation,14 cases carried SLC26 A4 deafness gene mutation,2 cases carried GJB3 deafness gene mutation and 6 cases carried mitochondria 12 S rRNA deafness gene mutation. 5 cases were diagnosed as hearing loss after audiological assessment. There was no statistical significance on the difference between the primary hearing screening results and the genetic screening results( P > 0. 05). Conclusion Hereditary deafness gene screening is a simple and effective screening method for neonatal hearing function,which is worth of promotion in clinic.
引文
[1]胡向阳,郑晓瑛,马芙蓉,等.我国四省听力障碍流行现况调查[J].中华耳鼻咽喉头颈外科杂志,2016,51(11):819-825.
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[3]谢林怡,兰兰,王大勇,等.听神经病谱系障碍患者听力学特征随访研究[J].中华耳科学杂志,2015,13(2):234-238.
[4]洪志军,刘秀丽,刘启贵. 1748名体检者耳鸣流行病学调查[J].中国耳鼻咽喉头颈外科,2017,24(4):171-174.
[5]胡向阳,龙墨,韩睿,等.吉林省全人群听力障碍流行状况调查[J].中国康复理论与实践,2016,22(3):330-334.
[6]张东红,王玉璟.沈阳市儿童听力筛查、听力障碍诊断治疗网络管理现状分析[J].中国妇幼保健,2010,25(7):880-881.
[7]王玉璟,张东红.沈阳市2007年32 682例听力筛查结果分析[J].中国妇幼保健,2010,25(6):866-867.
[8]张雪溪,张杰,陈敏,等.线粒体DNA突变与遗传性耳聋[J].中华耳科学杂志,2015,13(3):454-457.
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[10] Dowlati MA,Derakhshandeh-Peykar P,Houshmand M,et al.Novel nucleotide changes in mutational analysis of mitochondrial12SrRNA gene in patients with nonsyndromic and aminoglycosideinduced hearing loss[J]. Mol Biol Rep,2013,40(3):2689-2695.
[11]王国建,袁永一,李荣,等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志,2011,25(10):445-448.
[12] Rydzanicz M,Wróbel M,Pollak A,et al. Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss[J]. Biochem Biophys Res Commun,2010,395(1):116-121.
[13] Jiang H,Li Y,Sheng G,et al. Analysis of mt DNA 12S rRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in xinjiang[J]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi,2010,24(10):439-427.
[14] Ma T,Xue X,Dai P,et al. Epidemiological studies on mt DNA12S rRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province[J]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi,2012,26(13):581.
[15] Kong Y,Liu S,Wang SJ,et al. Cochlear implantation effect on deaf children with gap junction protein beta 2 gene mutation[J].Chin Med J(Engl),2013,126(7):1298-1301.
[16] Qing J,Zhou Y,Lai R,et al. Prevalence of mutations in GJB2,SLC26A4,and mt DNA in children with severe or profound sensorineural hearing loss in Southwestern China[J]. Genet Test Mol Biomarkers,2014,19(1):52-58.
[17] Kamiya K,Yum SW,Kurebayashi N,et al. Assembly of the cochlear gap junction macromolecular complex requires connexin26[J]. J Clin Invest,2014,124(4):1598-1607.
[18] Bauer PW,Geers AE,Christine Brenner MA,et al. The effect of GJB2,allele variants on performance after cochlear implantation[J]. Laryngoscope,2004,113(12):2135-2140.
[19]温晓君,颜善活,胡伟群,等.高分辨率熔解曲线法检测药物性耳聋相关线粒体12S rRNA突变[J].临床检验杂志,2016,34(1):1-4.
[20]郏文燕,滕尧树,丁禹.耳聋患者线粒体12S rRNA A1555G和CO1/tRNA(Ser(UCN))G7444A的突变分析[J].中国优生与遗传杂志,2017,25(3):30-32.
[21] Guan M,Fischel-Ghodsian NG. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial12S rRNA mutation[J]. Hum Mol Genet,2001,10(6):573-580.
[22]王亚男,赵柏丽.遗传性耳聋基因筛查在新生儿筛查中的应用及意义探析[J].泰山医学院学报,2017,38(12):1430-1431.
[23]章雪芹,魏澄,王栋,等.遗传性耳聋基因筛查在新生儿听力筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(3):273-275.
[2]王洪阳,李倩,丁海娜,等.新生儿听神经病谱系障碍的流行病学特征及其临床转归分析[J].中华耳科学杂志,2015,13(2):206-212.
[3]谢林怡,兰兰,王大勇,等.听神经病谱系障碍患者听力学特征随访研究[J].中华耳科学杂志,2015,13(2):234-238.
[4]洪志军,刘秀丽,刘启贵. 1748名体检者耳鸣流行病学调查[J].中国耳鼻咽喉头颈外科,2017,24(4):171-174.
[5]胡向阳,龙墨,韩睿,等.吉林省全人群听力障碍流行状况调查[J].中国康复理论与实践,2016,22(3):330-334.
[6]张东红,王玉璟.沈阳市儿童听力筛查、听力障碍诊断治疗网络管理现状分析[J].中国妇幼保健,2010,25(7):880-881.
[7]王玉璟,张东红.沈阳市2007年32 682例听力筛查结果分析[J].中国妇幼保健,2010,25(6):866-867.
[8]张雪溪,张杰,陈敏,等.线粒体DNA突变与遗传性耳聋[J].中华耳科学杂志,2015,13(3):454-457.
[9] Lu J,Li Z,Zhu Y,et al. Mitochondrial 12S rRNA variants in1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss[J]. Mitochondrion,2010,10(4):380-390.
[10] Dowlati MA,Derakhshandeh-Peykar P,Houshmand M,et al.Novel nucleotide changes in mutational analysis of mitochondrial12SrRNA gene in patients with nonsyndromic and aminoglycosideinduced hearing loss[J]. Mol Biol Rep,2013,40(3):2689-2695.
[11]王国建,袁永一,李荣,等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志,2011,25(10):445-448.
[12] Rydzanicz M,Wróbel M,Pollak A,et al. Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss[J]. Biochem Biophys Res Commun,2010,395(1):116-121.
[13] Jiang H,Li Y,Sheng G,et al. Analysis of mt DNA 12S rRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in xinjiang[J]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi,2010,24(10):439-427.
[14] Ma T,Xue X,Dai P,et al. Epidemiological studies on mt DNA12S rRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province[J]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi,2012,26(13):581.
[15] Kong Y,Liu S,Wang SJ,et al. Cochlear implantation effect on deaf children with gap junction protein beta 2 gene mutation[J].Chin Med J(Engl),2013,126(7):1298-1301.
[16] Qing J,Zhou Y,Lai R,et al. Prevalence of mutations in GJB2,SLC26A4,and mt DNA in children with severe or profound sensorineural hearing loss in Southwestern China[J]. Genet Test Mol Biomarkers,2014,19(1):52-58.
[17] Kamiya K,Yum SW,Kurebayashi N,et al. Assembly of the cochlear gap junction macromolecular complex requires connexin26[J]. J Clin Invest,2014,124(4):1598-1607.
[18] Bauer PW,Geers AE,Christine Brenner MA,et al. The effect of GJB2,allele variants on performance after cochlear implantation[J]. Laryngoscope,2004,113(12):2135-2140.
[19]温晓君,颜善活,胡伟群,等.高分辨率熔解曲线法检测药物性耳聋相关线粒体12S rRNA突变[J].临床检验杂志,2016,34(1):1-4.
[20]郏文燕,滕尧树,丁禹.耳聋患者线粒体12S rRNA A1555G和CO1/tRNA(Ser(UCN))G7444A的突变分析[J].中国优生与遗传杂志,2017,25(3):30-32.
[21] Guan M,Fischel-Ghodsian NG. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial12S rRNA mutation[J]. Hum Mol Genet,2001,10(6):573-580.
[22]王亚男,赵柏丽.遗传性耳聋基因筛查在新生儿筛查中的应用及意义探析[J].泰山医学院学报,2017,38(12):1430-1431.
[23]章雪芹,魏澄,王栋,等.遗传性耳聋基因筛查在新生儿听力筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(3):273-275.