2014年韶关市328例新生儿<i>GJB2、SLC26A4(PDS)、GJB3、MT-RNR1(12SrRNA)</i>耳聋基因突变调查

doi:10.3969/j.issn.1006-3110.2016.07.018

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摘要目的研究韶关新生儿GJB2、SLC26A4(PDS)、GJB3、MT-RNR1(12SrRNA)耳聋基因突变情况。方法对2014年韶关市妇幼保健院出生的328例新生儿采集足跟血,利用飞行时间质谱技术对GJB2、SLC26A4(PDS)、GJB3、MT-RNR1(12SrRNA)4个基因的20个高发突变位点进行检测。结果 4个基因在328份标本中有突变的有25例,突变率为7.62％。GJB2突变的有6例,突变率为1.83％。SLC26A4(PDS)突变的有12例,突变率为3.66％。MT-RNR1(12SrRNA)突变的有7例,突变率为2.13％。在328例检测新生儿中未检测出GJB3的突变。结论 2013年韶关新生儿GJB2、SLC26A4(PDS)、GJB3和MT-RNR1(12SrRNA)突变率低于全国平均水平。突变率最高的位点是IVS7-2A>G位点,突变率为3.05％。

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	蓝培基
	陈亚军
	刘毅
	吴良银
	康健
	陈贤艺
	余满

关键词 ：耳聋, 基因突变, 韶关

Abstract：Objective To study the mutations of deafness genes GJB2, SLC26A4(PDS), GJB3 and MT-RNR1(12SrRNA) among neonates in Shaoguan City. Methods Samples of heel blood were collected from 328 neonates born in Maternal and Child Health Hospital of Shaoguan City in 2014. Matrix-assisted Laser Desorption -Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) was employed to detect the 20 high mutation sites of 4 deafness-related genes GJB2, SLC26A4 (PDS), GJB3 and MT-RNR1 (12SrRNA). Results Among 328 neonates, 25 (7.62%) were detected with gene mutations, which included 6 (1.83%) cases of GJB2 gene mutation, 12 (3.66%) cases of SLC26A4 (PDS) gene mutation and 7 (2.13%) cases of MT-RNR1 (12SrRNA) gene mutation. GJB3 gene mutation was not detected in the 328 neonates. Conclusions The mutation rates of GJB2, SLC26A4 (PDS), GJB3 and MT-RNR1 (12SrRNA) among the neonates in Shaoguan City are below the national average. The IVS7-2A>G is the most common mutation, with the mutation rate of 3.05%.

Key words： Deafness Gene mutation Shaoguan

收稿日期: 2015-10-09

R764.43

基金资助:韶关市科技局科研项目(编号:2014CX/K330);韶关市卫计局科研项目(编号:Y14084)

作者简介: 蓝培基(1983-),男,硕士,讲师,E-mail:393545950@qq.com。

引用本文:

蓝培基, 陈亚军, 刘毅, 吴良银,康健, 陈贤艺,余满. 2014年韶关市328例新生儿GJB2、SLC26A4(PDS)、GJB3、MT-RNR1(12SrRNA)耳聋基因突变调查[J]. 实用预防医学, 2016, 23(7): 829-831. LAN Pei-ji, CHEN Ya-jun, LIU Yi, WU Liang-yin, KANG Jian, CHEN Xian-yi, YU Man. Mutations of deafness genes GJB2, SLC26A4 (PDS), GJB3 andMT-RNR1 (12SrRNA) in 328 neonates in Shaoguan City. , 2016, 23(7): 829-831.

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