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目的分析GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变在广西壮族自治区柳州地区非综合征性耳聋(nonsyndromic hearing impairment,NSHI)患儿中的作用。方法收集广西壮族自治区柳州聋哑学校的88 例非综合征性耳聋患儿的血样,提取DNA后经聚合酶链反应(PCR)分别扩增GJB2基因编码区及线粒体DNA,Apa Ⅰ酶切分析GJB2 235位点的C缺失突变、Prev-DAF药物性耳聋基因诊断试剂盒分析线粒体1555位点的A→G突变,对GJB2 235delC及线粒体DNA 12SrRNA A1555G的突变率进行统计分析。结果 88例患儿中1例(1．14％)为 GJB2 235delC纯合突变;5例(5．68％)为GJB2 235delC杂合突变;4例(4．55％)存在线粒体DNA 12SrRNA A1．555G 点突变,其中1例同时伴有GJB2 235delC杂合突变。在分子水平能够明确诊断者占11．37％。结论柳州地区耳聋患者常染色体隐性遗传性耳聋发生率较全国平均水平低．线粒体DNA 12SrRNA A1555G突变发生率偏高。应用基因诊断技术可以在地区性耳聋病因调查中进行快速筛查、诊断,可达到防止聋儿再生、指导聋儿康复等积极效果。
Objective To analyze the role of GJB2 235delC mutation and mitochondrial DNA 12SrRNA A1555G mutation in children with nonsyndromic hearing impairment (NSHI) in Liuzhou area of Guangxi Zhuang Autonomous Region. Methods Blood samples of 88 children with non - syndromic deafness were collected from Liuzhou deaf - mute school in Guangxi Zhuang Autonomous Region. DNA was extracted and the GJB2 gene coding region and mitochondrial DNA were amplified by polymerase chain reaction (PCR) The mutation of A site at position 1555 of mitochondria was analyzed by Prev-DAF genetic deafness gene diagnostic kit. The mutation rates of GJB2 235delC and mitochondrial DNA 12SrRNA A1555G were analyzed statistically. Results One case (1.14%) of 88 children was GJB2 235delC homozygous mutation; 5 cases (5.68%) were GJB2 235delC heterozygous mutation; 4 cases (4.55%) had 12SrRNA A1 mitochondrial DNA. 555G point mutations, of which 1 case accompanied by GJB2 235delC heterozygous mutation. At the molecular level can make a clear diagnosis accounted for 11.37%. Conclusion The incidence of autosomal recessive deafness in the deaf patients in Liuzhou is lower than the national average. Mitochondrial DNA 12SrRNA A1555G mutation in the high incidence. Application of gene diagnosis technology in the investigation of the causes of regional deafness for rapid screening, diagnosis, deaf children can be achieved to prevent regeneration, to guide the rehabilitation of deaf children and other positive effects.