【摘要】 目的　通过对作为 β tectorin编码的基因TECTB进行结构分析并探讨它与耳聋发生的关系 ,以鉴定其是否为新的耳聋基因。方法　 2 7个语前聋家系病人用直接测序的方法进行突变检测 ;40个语后聋家系则用PCR SSCP进行突变检测 ,对发现异常构象带者进一步行TECTB基因的DNA测序。结果　 2 7个语前聋家系病人发现三种核酸改变 ,但通过对这种改变的家系进一步检测时证实这些改变均未与耳聋共分离 ,为正常多态。 40个语后聋家系先证者用SSCP进行突变检测 ,未发现致病突变。结论　本研究的结果虽未能最终证明TECTB为耳聋的致病基因 ,但从该基因背景来分析它仍是很好的耳聋候选基因 ,有待进一步研究更多还原

【Abstract】 ObjectiveTo explore the relation of TEC TB, which encodes β-tectorin and the onset of deafness, to make sure if TECTB is a new gene of hereditary deafness. MethodsMutation screening of the TECTB gene is adopted to 27 cases of kindred prelingual deafness. Detecting mutation by polymerase chain reaction-single strand con-formation polymorphism (PCR-SSCP)are adopted to 40 cases of postlingual hearing impairment. Mutation screening is adopted to abnormal conformations. ResultsThree types of nucleotide mutations are found in 27 cases of kindred prelingual deafness. But the same mutations are detected in kindred normal persons, so the mutations are not co-separated with the deafness and these mutations may be polymorphism. Detecting mutation by PCR-SSCP in 40 cases of postlingual hearing impairment is negative. ConclusionTECTB gene is not proved to be a deafness gene by our research results, but it is still a strong candidate of deafness genes depending on its research background, on which further research is needed.更多还原