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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 understand the prevalence and mutation types of neonatal deafness gene in Ma’anshan district, and to provide guidance for preventing deafness and deafness. Methods Using gene chip microarray, 934 hot spot mutations in GJB2, SLC26A4, GJB3 and mitochondrial 12Sr RNA were detected in 2534 neonates. Results A total of 134 newborns were detected in 2534 newborns with carrier rate of 5.29% and 128 single heterozygous mutations (76 cases of GJB2 gene mutation, 34 cases of SLC26A4 gene mutation, 9 cases of GJB3 gene mutation and 12 cases of mitochondrial DNA mutation 9 (GJB2 235del C / SLC26A4 IVS7-2A> G 2 cases, 12S RNA 1555A> G homogenate / SLC26A4 IVS7-2A> G 1 cases) and GJB2 235del C homozygous mutation in 3 cases. Conclusions The mutation rate of deafness gene GJB2 and SLC26A4 is high in newborn infants in Ma’anshan district, while the mutation rate of GJB3 and mitochondrial 12Sr RNA is low. Through deafness gene screening, can prevent and reduce the occurrence of deafness, to improve the quality of the population, the purpose of prenatal and postnatal care.