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目的:了解OTOF基因在一常染色体显性遗传性听神经病家系的突变情况。方法:选择一个常染色体显性遗传听神经病家系中现存9名成员、3例散发听神经病患者和3名听力正常者为研究对象,用基因组DNA抽提试剂盒提取外周血DNA。对1例家系患者DNA进行OTOF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筛查;针对发现有突变的外显子,对其余受试者DNA样本进行PCR扩增和序列分析。结果:所有研究对象在OTOF基因相同部位上检测到10个新的碱基变异,但均未引起所编码氨基酸的改变。结论:该家系成员OTOF基因未发现有意义的突变位点,提示新基因参与家系耳聋的发生。
OBJECTIVE: To understand the mutation of OTOF gene in pedigree of an autosomal dominant acoustic neuropathy. Methods: Nine members of an autosomal dominant neuropathy pedigree, three patients with auditory neuropathy and three normal hearing persons were enrolled in this study. Genomic DNA extraction kit was used to extract DNA from peripheral blood. The DNA of one patient with pedigree was amplified by PCR from the entire coding region of OTOF gene. The amplified product was directly sequenced after purification. The sequencing results were compared with the standard sequence for mutation screening. For the exons with mutations found, DNA samples for PCR amplification and sequence analysis. RESULTS: All of the subjects detected ten new nucleotide variations at the same site of the OTOF gene, but none of them caused any change in the encoded amino acid. Conclusion: No significant mutation was found in the OTOF gene of this pedigree, suggesting that the new gene is involved in the deafness of pedigrees.