常染色体显性遗传性听神经病基因突变筛查

发布时间：2018-04-29 13:54

本文选题：听神经病谱系障碍 + 遗传　；参考：《中华耳科学杂志》2014年02期

【摘要】：目的针对一个常染色体显性遗传性非综合征性听神经病谱系障碍家系进行已知致病基因筛查分析,了解是否存在可能致病的基因突变。方法选择本课题组收集到的一个家系4代24人作为研究对象,采集受试者外周静脉血提取基因组DNA,应用在线引物设计软件Primers进行引物设计,采用直接测序法对已知听神经病相关基因进行测序,使用DNAMan软件对序列进行比对分析。结果该家系遗传方式符合显性遗传特征,患者听力学特征符合非综合征型听神经病谱系障碍,对家系中全部患者及部分听力正常成员完成DIAPH3、OTOF、PJVK、GJB2基因外显子及线粒体DNA12SrRNA1494、1555位点的测序分析,未发现可疑致病突变。结论该家系未检测到已知相关基因致病突变,高度提示新基因突变致病的可能,有待于进一步研究。
[Abstract]:Objective to screen and analyze known pathogenetic genes in an autosomal dominant nonsyndromic auditory neuropathy pedigree to determine whether there are possible mutations. Methods A total of 24 people from a family of 4 generations were selected as the subjects. The peripheral venous blood was collected to extract the genomic DNA. The primer design was carried out by using the online primer design software Primers. The known auditory neuropathy related genes were sequenced by direct sequencing, and the sequences were analyzed by DNAMan software. Results the genetic pattern of the family was consistent with the dominant genetic characteristics, and the audiological characteristics of the patients were consistent with the non-syndromic auditory neuropathy pedigree disorders. All the patients and part of the normal hearing members were sequenced for the exon of DIAPH3OTOFN PJVKN GJB2 gene and mitochondrial DNA 12SrRNA1494 (1555), and no suspicious mutation was found. Conclusion there is no known pathogenetic mutation of the gene in this pedigree, which suggests that the new gene mutation may cause the disease, which needs to be further studied.
【作者单位】：第四军医大学西京医院耳鼻咽喉头颈外科;
【基金】：国家自然科学基金面上项目(项目编号:81371100)
【分类号】：R764.41

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