CAJ | 학술논문

　　目的探讨基因芯片及酶切法在非综合征性耳聋患者检测中的意义，初步了解广州地区耳聋患者的相关基因突变。方法选取广州市聋校学生188人作为研究对象，采用遗传性耳聋基因芯片进行4个常见基因(GJB2、GJB3、SLC26A4和线粒体DNA 12S rRNA)9个致聋突变位点的检测，并用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism，PCR-RFLP）对线粒体DNA A1555G突变、GJB2基因的235delC突变和SLC26A4基因的IVS7-2A＞G突变位点进行检测。结果188例耳聋患者中检出42人携带耳聋相关基因突变，检出阳性率为22.34%，其中GJB2的235delC纯合突变12例，杂合突变3例，299_300delAT杂合突变1例，总检出率为8.51%；SLC26A4基因的IVS7-2A>G纯合突变7例，IVS7-2A>G、2168A>G复合杂合突变1例， IVS7-2A>G杂合突变17例，2168A>G杂合突变2例，总检出率为13.83%。基因芯片的检测结果均与酶切法检测结果一致。结论基因芯片与传统的酶切法相比具有操作简单快速、高通量、高准确性、低成本等特点，易于对人群进行大规模且快速准确的筛查。
　　목적탐토기인심편급매절법재비종합정성이롱환자검측중적의의，초보료해엄주지구이롱환자적상관기인돌변。방법선취엄주시롱교학생188인작위연구대상，채용유전성이롱기인심편진행4개상견기인(GJB2、GJB3、SLC26A4화선립체DNA 12S rRNA)9개치롱돌변위점적검측，병용취합매련반응-한제성편단장도다태성（polymerase chain reaction-restriction fragment length polymorphism，PCR-RFLP）대선립체DNA A1555G돌변、GJB2기인적235delC돌변화SLC26A4기인적IVS7-2A＞G돌변위점진행검측。결과188례이롱환자중검출42인휴대이롱상관기인돌변，검출양성솔위22.34%，기중GJB2적235delC순합돌변12례，잡합돌변3례，299_300delAT잡합돌변1례，총검출솔위8.51%；SLC26A4기인적IVS7-2A>G순합돌변7례，IVS7-2A>G、2168A>G복합잡합돌변1례， IVS7-2A>G잡합돌변17례，2168A>G잡합돌변2례，총검출솔위13.83%。기인심편적검측결과균여매절법검측결과일치。결론기인심편여전통적매절법상비구유조작간단쾌속、고통량、고준학성、저성본등특점，역우대인군진행대규모차쾌속준학적사사。
Objective To explore the significance of gene chips and restriction fragment length polymorphism(RFLP) in testing the patients with non-syndromic deafness and to investigate the common deaf-related gene mutations in Guangzhou. Methods The gene chip and RCR-RFLP were used to test 4 common deaf-related genes in 188 hearing-impaired students at schools for the deaf, including GJB2, GJB3, SLC26A4 and mitochondrial DNA 12S rRNA. Results 42 individuals carrying deafness-related gene mutations were detected in 188 cases and the positive rate was 22.34%. The 235delC homozygous mutation of GJB2 was found in 12 cases.The 235delC heterozygous mutation of GJB2 was found in 3 cases.The 299_300delAT heterozygous mutation of GJB2 was found in one case. The positive rate of GJB2 mutations was 8.51%. SLC26A4 gene IVS7-2A>G homozygous mutation was found in 7 cases. IVS7-2A>G/2168A>G compound heterozygous mutation was found in one case while 17 cases were heterozygous of IVS7-2A>G and 2 cases were heterozygous of 2168A>G. The positive rate of SLC26A4 mutations was 13.83%. The gene chip test results were consistent with the results of enzyme assay. Conclusion The gene chips have advantages over RCR-RFLP because of its rapidness, high-throughput, high accuracy, low cost, simple operation and applicable for large-scale detection of deafness-related gene mutations.