中文摘要：

目的比较SNPscan法与Sanger测序法用于甘肃省部分感音神经性聋患者常见聋病基因检测的优缺点。方法在知情同意的前提下,抽取甘肃省东乡族（122例）、裕固族（11例）、保安族（18例）三个特有少数民族共151例中重度至极重度感音神经性聋患者静脉血,用磁珠法提取基因组DNA,应用SNPscan法对GJB2、SLC26A4和mtDNA基因常见115个突变位点进行筛查,采用Sanger测序法对GJB2基因的第二个外显子、SLC26A4基因P8和P18两个外显子、mtDNA的两个常见突变位点进行测序,比较两种方法基因筛查的结果。结果经SNPscan法检测151例患者GJB2、SLC26A4、mtDNA A1555G和mtDNA C1494T基因突变的总检出率为23.18%（35/151）,其中东乡族、裕固族、保安族的检出率分别为21.31%（26/122）、54.54%（6/11）、16.67%（3/18）,与Sanger测序法的筛查结果一致,差异无统计学意义（P〉0.05）;SNPscan法在三个基因的致病基因型检出率分别为11.26%（17/151）、1.32%（2/151）、0.66%（1/151）,而Sanger测序法的检出率分别为9.93%（15/151）、1.32%（2/151）、0.66%（1/151）,差异无统计学意义（P〉0.05）。完成上述三种基因突变筛查SNPscan法耗时约10天,而Sanger测序法耗时约1个月,且前者费用较低,可同时对多个位点进行检测。结论与Sanger测序法相比较,SNPscan法用于聋病基因检测耗费时间短,通量较高,成本较低,得到更多的有意义的突变位点,有利于降低假阴性率,因此,在进行全部外显子测序前先进行SNPscan法筛查更有意义。

英文摘要：

Objective To compare the advantages and disadvantages of SNPscan and Sanger sequence which are both used to detect the common deafness gene mutations in non-syndromic hearing loss（NSHL）in Gansu Province.Methods Peripheral blood samples were obtained from Dongxiang,Yugu and Baoan people with moderately severe to profound sensorineural hearing loss in Gansu province to extract genomic DNA.SNPscan was used to detect the 115 mutations in the common pathogenic GJB2 gene,SLC26A4 gene and mtDNA gene.ResultsWe used the SNPscan to screen the mutation of GJB2 gene,mtDNA A1555 Gand mtDNA C1494 T,SLC26A4 gene of sensorinural deafness patients from Gansu Province.The mutation rate of these three genes was 23.18%（35/151）,and the mutation rate of Dongxiang,Yugu,Baoan was 21.31%（26/122）,54.54%（6/11）,16.67%（3/18）,respectively.Compared with the Sanger sequence,the results were statistically insignificant（P〈0.05）.The detection rates in the three genes of SNPscan were 11.26%（17/151）,1.32%（2/151）and 0.66%（1/151）,respectively,and the detection rates of Sanger sequence were 9.93%（15/151）,1.32%（2/151）and 0.66%（1/151）,respectively.The results of the two methods were compared.The results were statistically insignificant（P〈0.05）.Time,cost and flux,SNPscan method is superior to Sanger sequencing.Conclusion Compared with the Sanger sequence,SNPscan is more lighter in workload,less time-consuming,higher-throughput,lower cost,and can get more meaningful mutations and reduce the false negative rates.