【摘要】 目的探讨干血斑耳聋基因检测在茂名地区新生儿遗传性耳聋患儿中的应用价值,并观察常见基因位点突变分布特征。方法选取2018年5月至2019年3月茂名地区医院优生优育遗传医学中心门诊筛查的5 542例汉族儿童为研究对象,其中共170例遗传性耳聋患儿纳入研究,同时选择60例健康儿童为对照组,采用干血斑耳聋基因检测技术检测常见的耳聋相关基因缝隙连接蛋白β2基因(GJB2)、离子转运体26A4蛋白基因(SLC26A4)、线粒体mtDNA 12srRNA,对比遗传性耳聋患儿和健康儿童耳聋相关基因突变差异,分析遗传性耳聋患儿GJB2、SLC26A4、mtDNA 12s rRNA突变特点。结果茂名地区遗传性耳聋患儿中携带相关基因突变率(90.43%)明显高于健康对照组(0),差异有显著统计学意义(P<0.01);170例携带相关基因突变患儿中GJB2基因突变检出率最高,达47.65%(81/170),以235delC突变为主,占基因突变患儿40.00%,其次为299delAT、176del16;SLC26A4基因突变率为37.06%(63/170),以IVS7-2A>G突变为主,占基因突变患儿的32.94%,其次为2168A>G突变,占基因突变患儿的4.12%。mtDNA12s r RNA突变率最低,为11.18%(19/170),以1555A>G突变为主,占基因突变患儿4.71%;本组共检出特殊类型突变携带者7例。结论 GJB2、SLC26A4、mtDNA 12s rRNA基因突变可能是茂名地区遗传性耳聋患儿主要致聋基因,235delC、IVS7-2A>G是本组遗传性耳聋最常见的基因突变类型。更多还原

【Abstract】 Objective To explore the application value of dry blood spot deafness gene detection in infants with hereditary deafness in Maoming area, and to observe the mutation distribution characteristics of common gene loci.Methods A total of 5 542 children of Han nationality, who were screened in the Outpatient Clinic of Eugenic and Eugenic Medical Center of Hospitals in Maoming District from May 2018 to Mar. 2019, were selected as subjects. A total of 170 children with hereditary deafness were enrolled into the study, and 60 healthy children were selected as the control group. The common deafness correlations were detected by dry blood spot deafness gene detection technology. Gap junction protein beta 2 gene(GJB2), ion transporter 26 A4 protein gene(SLC26 A4), mitochondrial mtDNA 12 S rRNA were used to analyze the mutation characteristics of GJB2, SLC26 A4 and mtDNA 12 S rRNA in children with hereditary deafness and healthy children. Results The mutation rate of GJB2 gene in hereditary deafness children in Maoming area was 90.43%, which was significantly higher than 0 of the healthy children in the control group(P<0.01). The detection rate of GJB2 gene mutation was the highest in 170 children with 47.65%(81/170), and 235 delC mutation was the main mutation type, accounting for 40.00% of the children with genetic mutation, followed by 299 delAT, 176 del16. The mutation rate of SLC26 A4 gene was 37.06%(63/170), mainly IVS7-2 A>G mutation, accounting for 32.94% of children with gene mutation, followed by 2168 A>G mutation, accounting for 4.12% of children with gene mutation. The mutation rate of mtDNA 12 S r RNA was the lowest for 11.18%(19/170), with 1555 A>G mutation as the main mutation type,accounting for 4.71% of the children with gene mutation. A total of 7 carriers of special mutations were detected in this group. Conclusion GJB2, SLC26 A4, mtDNA 12 S rRNA gene mutations may be the main deafness genes in children with hereditary deafness in Maoming area. 235 delC, IVS7-2 A>G, 1555 A>G are the most common genetic mutation types of hereditary deafness in this group.更多还原