山东东营地区7875例新生儿耳聋基因筛查的结果分析

Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong

目的分析山东东营地区新生儿常见遗传性耳聋基因变异类型、发生频率和变异位点分布等,为开展大规模耳聋基因筛查和预防耳聋出生缺陷提供依据。方法应用半导体测序法对7875例新生儿18个常见耳聋基因的100个变异位点进行检测,统计分析基因变异种类、发生频率和变异位点分布等。结果共检出552例耳聋基因变异,发生频率为7.01%。其中,GJB2、SLC26A4和GJB3的热点变异分别为c.235delC、IVS7-2A>G和c.538C>T。耳聋相关线粒体基因MT-CO1、MT-RNR1、MT-TL1、MT-TS1的变异频率分别为0.38%、0.25%、0.10%、0.01%。确诊耳聋患者4例,其中1例为单侧耳聋。东营各县区耳聋相关变异基因的构成比分析显示,SLC26A4与GJB2相比,变异比例最高为利津县(51.76%vs.40.00%),最低为河口区(30.77%vs.56.41%)。结论东营地区新生儿耳聋基因变异检出率高于全国其他地区,其原因可能由于采用了半导体测序法,其覆盖的基因类型和变异位点数量均高于芯片法和飞行时间质谱法。由于地缘和人口聚集因素,东营各县区新生儿各耳聋变异基因构成比有明显不同。上述结果对东营地区耳聋出生缺陷的防控具有指导意义。

Objective To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province.Methods One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing.Variant site,frequency and distribution of the variants were analyzed.Results In total 552 deafness gene variants were detected among the 7875 newborns,which yielded a detection rate of 7.01%.Among these,common variant sites for GJB2,SLC26A4 and GJB3 genes were c.235delC,IVS7-2A>G and c.538C>T,respectively.The variant frequencies of matrilinear inheritance deafness genes MT-CO1,MT-RNR1,MT-TL1 and MT-TS1 were 0.38%,0.25%,0.1%and 0.01%,respectively.Four newborns were diagnosed with deafness,among which one had unilateral hearing loss.Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county(51.76%vs.40%),while the lowest was in Hekou county(30.77%vs.56.41%).Conclusion The carrier rate of deafness-related variants in Dongying area is higher than other regions of China,which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry.Due to geographical and population aggregation factors,the proportion of deafness variants in the five counties of Dongying differed significantly.Above results may provide a guide for the prevention of congenital deafness in Dongying area.