珠海地区9775例新生儿常见耳聋基因突变筛查结果分析

发布时间：2018-05-31 07:31

本文选题：耳聋基因 + 新生儿　；参考：《广东医学》2017年17期

【摘要】：目的了解珠海地区新生儿常见耳聋基因突变携带率、突变类型,为大规模开展耳聋基因筛查提供临床依据。方法选择中国人群常见4个耳聋基因(GJB2、GJB3、SLC26A4和12SrRNA)20个突变位点,采用基质辅助激光解析电离-飞行时间质谱法(MALDI-TOF-MS)对9 775例无耳聋家族史的新生儿进行常见耳聋基因突变检查。结果 9 775例新生儿中检出耳聋基因突变406例,携带率为4.2%。其中单基因单杂合突变402例,GJB2基因突变197例(携带率2.02%,),SLC26A4基因突变153例(携带率1.57%),GJB3基因突变29例(携带率0.30%),12SrRNA基因突变23例(携带率0.24%)。另单基因复合杂合突变2例,双基因复合杂合突变2例。检出突变位点18个,检出率最高的是GJB2的235del C突变位点,共检出164例(164/406,40.39%),其次是SLC26A4基因的IVS7-2AG位点,99例(99/406,24.38%)。结论珠海地区新生儿常见耳聋基因突变携带率较高,开展新生儿耳聋基因筛查有助于耳聋的早期防治。
[Abstract]:Objective to investigate the mutation rate and mutation type of deafness gene in neonates in Zhuhai, so as to provide clinical basis for large-scale screening of deafness genes. Methods A total of 20 mutation sites of GJB _ 2 GJB _ 3 SLC26A4 and 12s rRNA were selected from Chinese population. MALDI-TOF-MS was used to detect common deafness gene mutations in 9 775 newborns with no family history of deafness by matrix-assisted laser desorption ionization / time of flight mass spectrometry (MALDI-TOF-MS). Results the mutation of deafness gene was detected in 406 cases of 9 775 newborns, and the carrying rate was 4.2%. Among them, there were 402 single heterozygous mutations of GJB2 gene in 197 cases (carrying rate of 2.02%) and SLC26A4 gene mutation in 153 cases (carrying rate of 1.57) and GJB3 gene mutation in 29 cases (carrying rate of 0.30%) and 12s rRNA gene mutation in 23 cases (carrying rate of 0.24%). There were 2 cases of single gene complex heterozygosity mutation and 2 cases of double gene complex heterozygosity mutation. 18 mutation sites were detected, and the highest detection rate was 235del C mutation in GJB2. 164 cases were detected 164R / 406C 40.39g, followed by 99 IVS7-2AG loci of SLC26A4 gene. Conclusion the mutation rate of common deafness gene is high in Zhuhai area, and screening is helpful to the early prevention and treatment of deafness.
【作者单位】：珠海市妇幼保健院产科产前诊断中心;珠海市妇幼保健院检验科遗传研究所;
【基金】：珠海市医疗卫生科技计划项目(编号:20161027E030044)
【分类号】：R764.43

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