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目的:了解DFNB59基因是否与一个常染色体显性遗传性听神经病(AN)中国家系的发病相关。方法:以一个现存4代9人的AN家系为研究对象,用基因组DNA抽提试剂盒提取外周血DNA。对所有家系成员DNA进行DFNB59基因第2、第4外显子的PCR扩增,1例AN病患者进行DFNB59基因全部编码区的PCR扩增,扩增产物经纯化后直接测序,测序结果与标准序列对照进行突变位点鉴定。结果:所有研究对象的基因区域均扩增成功,序列分析在DFNB59基因第2、第4外显子上未检测到T54I和R183 W2个已知的突变,整个基因编码区也未发现新的致聋突变。结论:该家系成员DFNB59基因上未发现有意义的突变位点,提示新基因参与家系AN的发生。
AIM: To investigate whether DFNB59 is associated with the onset of an autosomal dominant auditory neuropathy (AN) in Chinese pedigrees. Methods: An existing 4-generation AN family of 4 generations was used as the research object. Genomic DNA extraction kit was used to extract peripheral blood DNA. All the members of the family DNA of DFNB59 exon 2, 4 exon PCR amplification, 1 case of AN disease in all DFNB59 gene coding region of PCR amplification, the amplified product was directly sequenced, sequencing and standard Sequence control mutation site identification. Results: The gene regions of all the subjects were successfully amplified. No known mutations of T54I and R183 W2 were found in the exon 2 and exon 4 of DFNB59 gene sequence analysis, and no new gene mutation was found in the entire gene coding region Deaf mutation. Conclusion: No significant mutations were found in the DFNB59 gene of this pedigree, suggesting that the new gene is involved in the development of pedigree AN.