【摘要】：目的:探討在新生兒聽力篩查的同時(shí),進(jìn)行耳聾易感基因GJB2和GJB3基因篩查的必要性和可行性,以早期發(fā)現(xiàn)耳聾高危人群,針對篩查到的病例進(jìn)行有效的咨詢和早期預(yù)警。方法:以1 000名新生兒作為研究對象,進(jìn)行常規(guī)的聽力篩查,同時(shí)采集其臍帶血。應(yīng)用MassARRAY分子量陣列分析系統(tǒng)對GJB2和GJB3基因突變位點(diǎn)進(jìn)行篩查;用Sanger測序法驗(yàn)證突變陽性樣本。結(jié)果:1 000例新生兒中,初次聽力篩查有141例(14.1%)未通過,經(jīng)過復(fù)篩共有11例(1.1%)未通過新生兒聽力篩查,其中2例為攜帶GJB2基因c.427CT純和突變的新生兒。攜帶GJB2基因c.235delC雜合突變的10例(1%),均通過聽力篩查。攜帶GJB3基因c.538CT雜合突變1例(0.1%),未通過聽力篩查。共有13名新生兒攜帶耳聾基因突變。結(jié)論:GJB2基因突變在本地區(qū)新生兒中攜帶率較高為1.2%。GJB2基因突變?yōu)楹惖貐^(qū)最主要的致病突變形式,在新生兒中進(jìn)行GJB2基因篩查,可在早期發(fā)現(xiàn)GJB2基因突變攜帶者,有效避免高危人群出現(xiàn)耳聾,提高人口素質(zhì)。
[Abstract]:Objective: to explore the necessity and feasibility of GJB2 and GJB3 gene screening for hearing loss susceptibility genes in newborns, so as to find out the high risk population of deafness early, and to carry out effective consultation and early warning for the selected cases. Methods: 1 000 newborns were selected for hearing screening and umbilical cord blood was collected. The mutation sites of GJB2 and GJB3 genes were screened by MassARRAY molecular weight array analysis system, and the mutation positive samples were confirmed by Sanger sequencing. Results: of the 1 000 neonates, 141 (14. 1%) had not passed the first hearing screening, 11 (1. 1%) had not passed the screening, 2 of them were pure and mutated with the GJB2 gene c.427CT. Ten cases (1%) with c.235delC heterozygosity of GJB2 gene passed hearing screening. One case (0.1%) carrying c.538CT heterozygosity of GJB3 gene failed to pass hearing screening. A total of 13 newborns carried a deafness gene mutation. Conclusion: the high rate of GJB2 gene mutation in the newborns is that the 1.2%.GJB2 gene mutation is the most important form of pathogenic mutation in Handan area. Screening the GJB2 gene in the newborn can find the carriers of GJB2 gene mutation in the early stage. Avoid deafness in high-risk population and improve population quality.
【作者單位】： 河北省邯鄲市中心醫(yī)院檢驗(yàn)科;邯鄲市中心醫(yī)院產(chǎn)科;
【基金】：重大出生缺陷和遺傳病的防治研究〔11276102D〕
【分類號】：R764

【參考文獻(xiàn)】

相關(guān)期刊論文 前10條

1 王冰;姚紅兵;徐潔;周媛;汪武;;非綜合征性耳聾兒童GJB2 235delC及線粒體DNA 12S rRNA A1555G突變分析[J];第三軍醫(yī)大學(xué)學(xué)報(bào);2009年15期

2 陳文霞;許政敏;楊曉林;王琰;蘆萍;戴玉瓊;;非綜合征型聾兒的GJB2基因突變55例分析研究[J];中國兒童保健雜志;2010年12期

3 王樹輝;胡正茂;肖自安;唐青來;夏昆;楊新明;;GJB2基因在湖南地區(qū)非綜合征耳聾患者中的突變分析[J];中南大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2009年06期

4 袁永一;黃德亮;戴樸;朱秀輝;于飛;張昕;劉麗賢;韓東一;;赤峰市特教學(xué)校耳聾患者GJB2和GJB3及GJB6基因突變分析[J];臨床耳鼻咽喉頭頸外科雜志;2008年01期

5 王國建;袁永一;李榮;韓明昱;黃莎莎;康東洋;張昕;董敏;戴樸;韓東一;;不同聽力學(xué)表型人群中常見耳聾基因突變檢出率的分析[J];臨床耳鼻咽喉頭頸外科雜志;2011年10期

6 王國建;戴樸;韓東一;金政策;李琦;陳靜;孫R，

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