CAJ | 학술논문

目的：验证SLC26A4基因ivs16+10C>T变异与遗传性耳聋的相关性，确定其是否致病。方法我们采集了一个聋-聋婚配家庭中的2例样本（编号7518）、200例大前庭水管散发病例及200例正常听力对照的血液样本及临床资料，分析该变异在人群的携带情况。采用在线软件预测（Fruitfly）及RT-PCR法验证SLC26A4基因ivs16+10C>T变异是否对剪切位点的识别产生影响。结果 SLC26A4 ivs16+10C>T变异在中国人群中携带率低。在200例EVAS散发患者及200例正常人中检测，均未发现携带该变异。Fruitfly结果显示SLC26A4 ivs16+10C>T对剪切位点的识别没有影响，RT-PCR证实SLC26A4编码cDNA长度没有改变。结论 SLC26A4 ivs16+10C>T变异是非致病的核苷酸多态，推测7518家庭的后代不会复制父母的听力。
목적：험증SLC26A4기인ivs16+10C>T변이여유전성이롱적상관성，학정기시부치병。방법아문채집료일개롱-롱혼배가정중적2례양본（편호7518）、200례대전정수관산발병례급200례정상은력대조적혈액양본급림상자료，분석해변이재인군적휴대정황。채용재선연건예측（Fruitfly）급RT-PCR법험증SLC26A4기인ivs16+10C>T변이시부대전절위점적식별산생영향。결과 SLC26A4 ivs16+10C>T변이재중국인군중휴대솔저。재200례EVAS산발환자급200례정상인중검측，균미발현휴대해변이。Fruitfly결과현시SLC26A4 ivs16+10C>T대전절위점적식별몰유영향，RT-PCR증실SLC26A4편마cDNA장도몰유개변。결론 SLC26A4 ivs16+10C>T변이시비치병적핵감산다태，추측7518가정적후대불회복제부모적은력。
Objective To analyze the pathogenesis of a novel mutation SLC26A4 ivs16+10C>T detected in a Chinese family (No.7518), and provide the basic information for the molecular diagnosis of genetic hearing loss. Methods Blood sam-ple and clinical data of family 7518, 200 sporadic EVAS (enlarge vestibular aqueduct syndrome) cases and 200 normal con-trol were collected. By splice site prediction and RT-PCR, we analyze the pathogenesis of SLC26A4 ivs16+10C>T. Results According to Fruitfly, a change in the splice donor sequence from C to T in intron 16 of SLC26A4, is predicted to make no change in splice site recognition. RT-PCR results showed this mutation does not influence the length of mRNA. In addition, we identified SLC26A4 ivs16+10C>T is rare in Chinese population. This mutation were absent in the 200 sporadic patients and 200 ethnicity-matched controls. Conclusion Our results demonstrated that SLC26A4 ivs16+10C>T is not likely to be a pathogenic mutation. And their offspring will not replicate parents’hearing.