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目的分析湖州地区汉族新生儿耳聋基因的热点突变发生率,为预防先天性听力障碍提供依据。方法应用飞行时间质谱技术,对2014年2月—2016年4月在湖州市妇幼保健院出生的7 503名汉族新生儿GJB2、SLC26A4、GJB3和线粒体12SrRNA等4个常见耳聋相关致病基因的20个热点突变位点进行检测,分析各基因突变位点的检测阳性率。结果 7 503名新生儿中基因筛查阳性374例,阳性率为4.99%。其中GJB2基因突变211例(2.81%);SLC26A4基因突变116例(1.55%);GJB3基因突变39例(0.52%);线粒体12SrRNA基因突变8例(0.11%)。GJB2基因突变频率最高的位点为235del C,其次为299_300del AT和176_191del16;SLC26A4基因突变频率最高的位点为IVS7-2A>G,高于该基因其他位点;GJB3基因突变频率最高的位点为547G>A,其次为538C>T;线粒体12S rRNA基因主要在1555A>G位点突变。结论湖州地区汉族新生儿耳聋相关致病基因突变率最高的是GJB2,其次为SLC26A4、GJB3和线粒体12SrRNA基因。
Objective To analyze the incidence of hot spot mutation in neonates with deafness of Han nationality in Huzhou area and provide basis for prevention of congenital hearing impairment. Methods Totally 20 neonates with GJB2, SLC26A4, GJB3 and mitochondrial 12SrRNA, which were born in Huzhou Maternal and Child Health Hospital from February 2014 to April 2016, were analyzed by using time of flight mass spectrometry. A hot spot mutation detection, analysis of gene mutation locus detection positive rate. Results A total of 374 neonates were found in 7 503 neonates, the positive rate was 4.99%. There were 211 cases (2.81%) of GJB2 gene mutation, 116 cases (1.55%) of SLC26A4 gene mutation, 39 cases (0.52%) of GJB3 gene mutation and 8 cases (12 cases) of mitochondrial 12SrRNA gene mutation (0.11%). The highest frequency of GJB2 gene mutation was 235del C, followed by 299_300del AT and 176_191del16. The highest frequency of SLC26A4 mutation was IVS7-2A> G, which was higher than the other loci of GJB2 gene. The highest frequency of GJB3 mutation 547G> A, followed by 538C> T; mitochondrial 12S rRNA gene mainly in the 1555A> G site mutation. Conclusions The highest mutation rate of neonatal deafness-related gene in Huzhou is GJB2, followed by SLC26A4, GJB3 and mitochondrial 12SrRNA.