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目的探讨TMIE基因突变与中国人群非综合征性聋的关系以及TMIE基因突变频率和特性。方法收集中国人群中散发非综合征性聋患者123例、遗传性非综合征性聋家系先证者62例及部分成员、以及健康对照60例临床资料及外周血DNA,应用聚合酶链反应(polymerase chain reaction,PCR)扩增TMIE基因编码区片段,通过变性高效液相色谱法(denaturing high-performance liquid chromatography,DHPLC)筛查TMIE基因突变,经DNA测序检测突变。结果在两个散发非综合征性聋患者和一个常染色体显性遗传性非综合征性聋家系中先证者TMIE基因编码区PCR产物DHPLC结果异常,但序列检测没有发现TMIE基因编码区的突变,仅分别发现第二内含子区域IVS2-53G>A和第三外显子506A-G基因单核苷酸多态性呈杂合状态。其中506A-G单核苷酸多态未见有报道。结论中国人群中遗传性非综合征性聋患者TMIE基因突变频率较低,不可能是中国人群中非综合征性聋的主要致病基因。
Objective To investigate the relationship between TMIE gene mutation and non-syndromic deafness in Chinese population and the frequency and characteristics of TMIE gene mutation. Methods 123 cases of non-syndromic deafness, 62 cases of hereditary non-syndromic deaf families and some members of healthy people were included in this study. The clinical data of 60 cases of healthy non-syndromic deafness and peripheral blood DNA were collected and analyzed by polymerase chain reaction polymerase chain reaction (PCR) was used to amplify the TMIE gene coding region. The TMIE gene mutation was screened by denaturing high-performance liquid chromatography (DHPLC). The mutations were detected by DNA sequencing. Results The PCR products DHPLC of the TMIE gene coding region were abnormal in two sporadic non-syndromic deaf patients and one autosomal dominant hereditary non-syndromic deafness family, but no mutation in the coding region of TMIE gene was detected by sequence analysis , Only the second intron region IVS2-53G> A and third exon 506A-G gene single nucleotide polymorphism were found to be heterozygous. 506A-G single nucleotide polymorphisms have not been reported. Conclusion The frequency of TMIE mutation in hereditary non-syndromic deafness in Chinese population is low and unlikely to be the major causative gene of non-syndromic deafness in Chinese population.