摘要
目的了解本地区常见遗传性耳聋基因突变谱及突变频率。方法对157例耳聋患儿,应用飞行时间质谱技术进行4个常见耳聋基因GJB2、线粒体12srRNA、SLC26A4和GJB3检测,检测位点包含以上4个基因的20个热点突变位点。结果157例耳聋患儿中检出耳聋基因突变67例,检出率42.68%,其中致病突变38例,包括17例GJB2c.235delC纯合突变,8例GJB2复合杂合突变,5例SLC26A4IVS7-2A>G纯合突变和8例SLC26A4复合杂合突变。在各突变位点中检出率最高的是GJB2235delC39例,检出率31.85%,其次是SLC26A4IVS7-2A>G19例,检出率12.10%。未检测出GJB3基因和mtDNA突变。有耳聋家族史患儿中有52.94%检出基因突变,与无耳聋家族史者检出率差异无统计学意义(χ~2=0.369,P>0.05)。结论 GJB2及SLC26A4基因为本地区耳聋患儿中常见致病基因,235delC和IVS7-2A>G分别为GJB2和SLC26A4的主要突变形式。
Objective:To understand the gene mutation spectrum and mutation frequency of common hereditary deafness in this region. Methods:For 157 children with deafness,four common deafness genes GJB2,mitochondrial 12 srRNA,SLC26A4 and GJB3 were detected by time-of-flight mass spectrometry. The detection sites contained 20 hotspot mutation sites of the above four genes. Results:A total of 67 cases of deafness gene mutations were detected in 157 children with deafness. The detection rate was 42.68%,including 38 cases of pathogenic mutations,17 cases of GJB2 c.235delC homozygous mutation,8 cases of GJB2 complex heterozygous mutation,5 cases of SLC26A4 IVS7-2A>G homozygous mutation and 8 cases of SLC26A4 complex heterozygous mutation. Among the mutation sites,the highest detection rate was GJB2 235delC 39 cases,with 31.85% detection rate;followed by SLC26A4 IVS7-2A>G19 cases,and the detection rate was 12.10%. GJB3 gene and mt DNA mutations were not detected. There were 52.94% of the children with family history of deafness detected mutations,and there was no significant difference between the detection rate of family history with and without deafness(χ~2=0.369,P>0.05). Conclusion:The GJB2 and SLC26A4 genes are common pathogenic genes in children with deafness. 235delC and IVS7-2A>G are the major mutations of GJB2 and SLC26A4,respectively.
作者
余红
杨晶群
吴长划
YU Hong;YANG Jing-qun;WU Chang-hua(Department of Children's Health Care,Maternal and Child Health Care Hospital,Shaoxing 312000,China)
出处
《中国优生与遗传杂志》
2019年第8期986-987,999,共3页
Chinese Journal of Birth Health & Heredity
基金
浙江省医药卫生科技计划项目(2017KY671)
绍兴市科技计划项目(2018C30047)
关键词
非综合征
遗传性耳聋
耳聋基因
Non-syndromic
Hereditary deafnes
Deafness gene
