摘要
目的:在定位于9号染色体DFNA55基因座位内的常染色体显性遗传性耳聋大家系686家系中进行AQP3基因突变检测,分析基因与该家系表型的关系。方法:686家系共有21人份DNA血样,其中感音神经性听力下降患者9人。AQP3基因共有6个外显子,针对AQP3基因的全部编码序列共设计了5对引物,进行PCR扩增,对扩增产物进行20g/L琼脂糖凝胶电泳,检测其纯度、浓度,应用PCR产物直接测序法进行基因突变检测;使用DNAStar软件进行测序序列的对比分析,检测基因突变。结果:在AQP3基因第4外显子上检测到两个点突变,其中390C>T/390C>T(F130F)为纯合同义突变,家系所有成员均发生了这种改变;394G>A/WT(D132N)为杂合错义突变,家系中有4人发生了这种变化,其中有3人为耳聋患者,1名为听力正常人。结论:在686家系成员中检测到两个点突变均不是686家系的致病突变,但394G>A/WT(D132N)引起了氨基酸的改变,该突变对于686家系的表型到底会有怎样的贡献,还需要进一步的研究。686家系的致病基因需进一步研究探索。
AIM：To analyze the mutations of AQP3 gene for the purpose of identifying the causative gene located in DFNA55 locus in a Chinese pedigree with autosomal dominant nonsyndromic deafness （DeaFNess Autosomal,DFNA）. METHODS：There were 21 DNA sample in this pedigree,among whom 9 were patients and 12 had normal hearing. The coding sequences of AQP3 gene were amplified by polymerase chain reaction （PCR） with 5 pairs of primers,and PCR product s bidirectional sequencing were performed and analyzed with DNA Star Software. RESULTS：Two point mutations were detected. The first mutant point was 390C〉T/390C〉T（F130F） nexon 4 all members in pedigree. The second mutant point was 394GA/WT（D132N）,which were found in 3 patients and 1 member with normal hearing. CONCLUSION：We found two point mutations that one caused no amino acid changed and the other caused D132N,but AQP3 gene isn＇t the responsible gene for this pedigree with auditory neuropathy.
出处
《细胞与分子免疫学杂志》
CAS
CSCD
北大核心
2010年第4期376-378,共3页
Chinese Journal of Cellular and Molecular Immunology
