马鞍山地区2534例新生儿耳聋基因突变方式调查

Investigation on gene mutation patterns of deafness in 2534 neonates in Ma'anshan

目的了解马鞍山地区新生儿耳聋基因的携带率及突变类型,为防聋治聋工作提供指导依据。方法应用芯片基因筛查技术,对2534例新生儿进行GJB2、SLC26A4、GJB3、线粒体12Sr RNA 4个常见耳聋基因9个热点突变位点的检测。结果 2534例新生儿中检测出基因突变134例,携带率5.29%,单基因杂合突变128例(GJB2基因突变76例,SLC26A4基因突变34例,GJB3基因突变9例,线粒体12Sr RNA基因突变9例),双基因突变3例(GJB2 235del C/SLC26A4 IVS7-2A>G 2例,12S RNA 1555A>G均质/SLC26A4 IVS7-2A>G 1例),GJB2 235del C纯合突变3例。结论在马鞍山地区的新生儿中,耳聋基因GJB2和SLC26A4突变率较高,GJB3、线粒体12Sr RNA突变率较低。通过耳聋基因筛查,可预防和减少耳聋的发生,达到提高人口质量,优生优育的目的。

Objective：To investigate the carrying rate and mutation type of neonatal deafness genes in Ma′anshan,provide guidance basis for preventing deaf for deaf. Methods：2534 cases of newborn infants with GJB2 gene,SLC26 A4,GJB3 and mitochondrial 12 Sr RNA were detected by microarray gene screening technique,and 9 hot spots were detected by. Results：2534 cases of neonatal gene mutation in 134 cases,carrying rate of 5.29%,a single gene heterozygous mutation in 128 cases（76 cases of mutations of GJB2 gene,SLC26 A4 gene mutation in 34 cases,9 cases of mutations of GJB3 gene,mitochondrial 12 Sr RNA gene mutation in 9 cases）,double Gene mutation in 3 cases（GJB2 235 del C/SLC26 A4 IVS7-2 A G,12 S RNA 1555 A ＋ G/SLC26 A4 IVS7-2 A ＋ G in 1 cases）,GJB2 235 del C homozygous mutation in. Conclusion：The GJB2 gene,SLC26 A4,GJB3,mitochondrial 12 Sr RNA of 4 common genes in the area of newborn in Ma＇anshan have been mutated,and the mutation rates of GJB2 and SLC26 A4 are higher. GJB3,mitochondria,12 srrna mutation rate is low. Through the deafness gene screening,can prevent and decrease of deafness,to improve the quality of the population,the purpose of eugenics.