韶关地区1 242例新生儿耳聋易感基因筛查结果分析

doi:10.3969/j.issn.1006-3110.2018.12.012

摘要
图/表
参考文献
相关文章 (8)

全文: PDF (1180 KB) HTML (1 KB)
输出: BibTeX | EndNote (RIS)

摘要目的研究韶关地区新生儿耳聋易感基因携带情况,为开展遗传咨询和建立耳聋防控体系提供科学依据。方法采用多重PCR联合导流杂交技术检测1 242例新生儿的4个耳聋基因的13种突变位点。结果耳聋基因携带者共检出53例(4.27%,53/1 242),其中SLC26A4检出24例(1.93%,24/1 242);GJB2检出19例(1.53%,19/1 242);mtDNA检出8例(0.64%,8/1 242);GJB3检出2例(0.16%,2/1 242)。结论韶关地区人群最主要的耳聋基因是SLC26A4,IVS7-2A>G为其突变热点;其次是GJB2基因,235delC为其突变热点。对新生儿人群进行耳聋易感基因筛查,有助于遗传性耳聋的早发现、早干预,具有良好的临床应用价值。

	服务

	把本文推荐给朋友
	加入我的书架
	加入引用管理器
	E-mail Alert
	RSS
	作者相关文章
	马占忠
	许红雁
	张浔
	钟永红
	范舒舒
	刘玉兰
	李嘉兴

关键词 ：耳聋, 基因突变, 基因筛查

Abstract：Objective To study the carrying status of deafness susceptibility genes among newborns in Shaoguan region, and to provide a scientific basis for developing genetic counseling and establishing a deafness prevention and control system. Methods Multiplex PCR combined with diversion hybridization technology was used to detect 13 hotspot mutations of four deafness-associated genes in 1,242 newborns. Results A total of 53 (4.27%, 53/1,242) deafness-associated gene carriers were detected, of which SLC26A4 was detected in 24 cases (1.93%, 24/1,242), GJB2 in 19 cases (1.53%, 19/1,242), mtDNA in 8 cases (0.64%, 8/1,242) and GJB3 in 2 cases (0.16%, 2/1,242). Conclusions The main deafness-associated genes in Shaoguan region are SLC26A4 and GJB2, and their mutation hotspots are IVS7-2A>G and 235delC respectively. Screening the neonatal population for deafness susceptibility genes is conducive to early detection and early intervention of hereditary deafness, and has a good clinical application value.

Key words： deafness gene mutation gene screening

收稿日期: 2017-12-13

R764.43

基金资助:韶关市科研计划项目(2017cx/016);韶关市卫生计生科研项目(Y17059)

作者简介: 马占忠(1981-),男,硕士,副主任检验师,主要从事分子诊断工作。

引用本文:

马占忠, 许红雁, 张浔, 钟永红, 范舒舒, 刘玉兰, 李嘉兴. 韶关地区1 242例新生儿耳聋易感基因筛查结果分析[J]. 实用预防医学, 2018, 25(12): 1452-1454. MA Zhan-zhong, XU Hong-yan, ZHANG Xun, ZHONG Yong-hong, FAN Shu-shu, LIU Yu-lan, LI Jia-xing. Screening results of deafness susceptibility genes among 1,242 newborns in Shaoguan region. , 2018, 25(12): 1452-1454.

链接本文:

https://www.syyfyx.com/CN/10.3969/j.issn.1006-3110.2018.12.012 或 https://www.syyfyx.com/CN/Y2018/V25/I12/1452

[1] Yao GD, Li SX, Chen DL, et al.Combination of hearing screening and genetic screening for deafness susceptibility genes in newborns[J].Exp Ther Med,2014,7(1):218-222.
[2] Abed AB, Saad H, Mustpha R, et al.Early hearning screening by otoacoustic emissions and auditory brain stem response in Nabeul[J].Tunis Med,2013,91(11):643-647.
[3] 孙雪晶, 席作明, 张静,等. 11 046名新生儿听力与聋病易感基因联合筛查结果分析[J].中华医学遗传学杂志,2015, 32(6):766-770.
[4] 丁红珂,尹爱华.非综合征遗传性耳聋的基因诊断进展[J].中国产前诊断杂志,2015,7(1):48-53.
[5] Roshan M, Kabekkodu SP, Vijaya PH, et al.Analysis of mitochondrial DNA variations in Indian patients with congenital cataract[J]. MolVis, 2012, 18:181-193.
[6] Chen J, Yuan H, Lu J, et al. Mutations at position 7,445 in the precursor of mitochondrial tRNA^Ser(UCN) gene in three maternal Chinese pedigrees with sensorineural hearing loss[J]. Mitochondrion, 2008, 8(4):285-292.
[7] 蓝培基,陈亚军,刘毅,等. 2014年韶关市328例新生儿GJB2、SLC26A4(PDS)、GJB3、MT-RNRl(12SrRNA)耳聋基因突变调查[J].实用预防医学,2016,23(7):829-831.
[8] 孙晓勉,陆洋,黄旭丽.深圳市福田区新生儿听力及耳聋基因联合筛查分析[J].中国妇幼健康研究,2015,26(6):1119-1121.
[9] 熊怡,钟梅,李欣,等.中山市新生儿听力筛查联合耳聋基因检测结果分析[J].产与遗传(电子版),2016,6(1):25-29.
[10] 张祥,刘世国,王艺霖,等.基因芯片在非综合征型耳聋基因突变中的应用[J].医学检验与临床,2017,28(1):35-37.
[11] 项延包,李焕铮,徐雪琴,等. 12个前庭导水管扩大耳聋家系的致病基因分析及产前诊断[J]. 中华医学遗传学杂志,2017,34(3):336-341.
[12] 刘闽,胥亮, 刘水霞,等. 广西地区222例感音神经性聋患者常见耳聋基因筛查结果分析[J].听力学及言语疾病杂志,2017,25(1):5-8.
[13] 王世媛,孙晓勉,陆洋,等. 新生儿听力与聋病易感基因联合筛查模式探讨[J]. 中国妇幼健康研究,2017,28(2):156-159.
[14] 王芳,刘星辰, 郭玉芬.线粒体DNA突变与遗传性聋[J]. 听力学及言语疾病杂志,2016,24(4):405-409.
[15] 徐彬,余元勋,王迎新,等. 安徽省汉族人氨基糖苷类抗生素致耳聋患者基因突变的研究[J]. 安徽医科大学学报, 2016,51(11):1653-1657.
[16] 杨雪,吴忠琴,朱晓西,等. 线粒体遗传性耳聋一家系[J].中华医学杂志,2016,96(48):3912-3913.
[17] 李彦琼,刘德胜,吕超绍,等.云南337名非综合征型聋患者GJB3基因C538T 和G547A 突变分析[J].中国实验诊断学,2016,20(12):2024-2029.
[18] 任淑敏,吴庆华,刘宁,等. 遗传性耳聋家系的产前诊断及遗传咨询[J].中国产前诊断杂志, 2016, 8(1):26-29.
[19] 李红娟,王雅莉,杨艳.1 024例新生儿耳聋易感基因携带情况调查[J].实用预防医学,2018,25(1):87-89.