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| An analysis on hereditary deafness gene test results of 93 cases of deaf children |
| YU Hong,YANG Jing-qun, LIU Dan,WU Zhi-qiang,SUN Dong-mei
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| Maternal and Child Health Care Hospital of Shaoxing City, Shaoxing,Zhejiang, 312000 ,China |
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Abstract Objective To learn the situation of deafness gene among deaf children and to provide suggestions for intervention.Methods Twentyhot spot mutations of the common deafness genes of GJB2, GJB3, MT-RNR1, SLC26A4 for 93 deafness patients were detected by MALDI-TOF-MS, and Sanger sequencing method was used to detect the whole exon of the gene for the heterozygous mutant.Results A total of 48 cases were detected with mutation among the 93 patients using MALDI-TOF-MS, and the detection rate was 51.61%. Thirty five cases were GJB2 mutation, and the detection rate was 37.63%, in which 24 cases were homozygous mutation or compound heterozygous mutations and 11 cases were heterozygous mutation. Thirteen cases were SLC26A4 mutation, and the detection rate was 13.98%, in which 6 cases were homozygous mutation or compound heterozygous mutations and 7 cases were single heterozygous mutation. Mutation in MT-RNR1 and GJB3 gene were not detected. Among the 18 mutation cases, 17 cases were detected the whole exon of the gene with mutation using Sanger sequencing, and 12 cases were detected other loci heterozygous mutation (70.59%). And a total of 42 cases were found out the cause of the deafness, and the detection rate was 45.16%.Conclusion The mutation of the common deafness gene in patients with deafness in the region has a high detection rate. The whole exon of the gene with mutation was detected, which can improve the detection rate of the cause of deafness.
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Received: 03 May 2016
Published: 11 December 2017
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[1] 第二次全国残疾人抽样调查办公室.第二次全国残疾人抽样调查主要数据手册[M].北京:华夏出版研究社,2007:2-38.
[2]韩德民.新生儿听力及耳聋基因联合筛查[J].中国医学文摘-耳鼻咽喉科学,2012,27(6):290-292.
[3]OLUSANYA B O. Neonata hearing screening and intervention in resource-limited settings: an overview[J].Arch Dis Child,2012,97(7):654- 659.
[4]PAPACHARALAMPOUS G X, NIKOLOPOULOS T P, DAVILIS D I, et al. Universal newborn hearing screening, a revolutionary diagnosis of deafness: real benefits and limitations[J]. Eur Arch Otorhinolaryngol, 2011,268(10):1399-1406.
[5]于飞,韩东一,戴朴,等.1 190例非综合征性耳聋患者GJB2基因突变序列分析[J].中华医学杂志,2007,87(40):2814-2819.
[6]袁永一,王国建,黄德亮,等.大前庭水管相关SLC26A4基因热点突变区域筛查方案探讨[J].中华耳科学杂志,2010,8(3):292-295.
[7]刘新,戴朴,黄德亮,等.线粒体DNA A1555G突变大规模筛查及其预防意义探讨[J].中华医学杂志,2006,86(19):1318-1322.
[8]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.
[9]李倩,王秋菊.新生儿聋病易感基因筛查的研究进展[J].听力学及言语疾病杂志,2015,23(1):91-96.
[10]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(1)——GJB2 235delC和线粒体DNA 12SrRNAA1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.
[11]纪育斌,兰兰,王大勇,等.中国非综合征型聋患儿GJB2基因突变流行病学文献荟萃分析[J].听力学及言语疾病杂志,2011,19(4):323-327.
[12]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.
[13]余红,杨晶群,刘丹,等.新生儿常见聋病易感基因携带情况研究[J].浙江预防医学,2015,27(3):221-224.
[14]DEN DUNNEN J T,ANTONARAKIS S E.Nomenclature for the description of human sequence variations[J]. Hum Genet,2001,109(1):121-124.
[15]ANTONARAKIS S E.Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group[J].Hum Mutat,1998,11(1):1-3.
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