摘要
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。
Objective To analyze the pathogenesis of a novel mutation SLC26A4 ivsl6＋ 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 ivsl6＋ 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 ivsl6＋ 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 ivs 16＋ 10C〉T is not likely to be a pathogenic mutation. And their offspring will not replicate parents＇ hearing.
出处
《中华耳科学杂志》
CSCD
北大核心
2014年第1期26-29,共4页
Chinese Journal of Otology
基金
国家自然科学基金重点项目(81230020)
“十二五”国家科技支撑计划重点项目(2012BAI12B00/2012BAI12B01)
中国博士后科学基金面上资助(2012M21878),中国博士后科学基金特别资助(2013T60947)
国家科技支撑计划课题(2012BAI09B02)
