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DNA12S rRNA1494、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。%Objective To identify possible pathogenic gene mutations in a Chinese pedigree with autosomal dominant hereditary non-syndromic auditory neuropathy spectrum disorder (ANSD) . Methods A pedigree of 4 generations (24 people ) was studied. Genomic DNA was extracted from peripheral blood. Primers were designed using a free internet primer de-sign software. Known auditory neuropathy related genes were analyzed by direct sequencing and gene sequences were ana-lyzed comparatively using the DNAMan software. Results In this pedigree, the mode of inheritance was consistent with autoso-mal dominant genetic diseases, and the characteristics of patients were in accordance with the diagnosis of auditory neuropa-thy spectrum disorder (ANSD). Direct sequencing of exons of the DIAPH3, OTOF, PJVK, GJB2 and GJB3 genes as well as the mitochondrial 12SrRNA gene in all patients and some other members with normal hearing in this pedigree showed no suspi-cious mutation. Conclusion None of the known pathogenic mutations is detected in this Chinese ANSD family, suggesting the possible existence of new disease-causing genes, which should be further studied.
展开▼
