河南省安阳市特教学校非综合征型聋学生SLC26A4基因突变热点区域的分析

目的利用基因诊断方法调查河南省安阳地区聋哑学生SLC26A4基因突变热点区域的基因突变频率。方法对安阳市特教学校151例聋哑学生采集外周血并提取DNA,以序列分析方法检测SLC26A4基因的突变热点区域（包括外显子7＋8、19、10、17、15）。结果SLC26A4基因突变热点区域序列分析结果显示31.79%（48/151）患者检测到了SLC26A4基因的突变,包括双等位基因突变者26例（17.22%）,单等位基因突变者22例（14.57%）。结论安阳地区耳聋人群的SLC26A4基因突变频率明显高于国内外的报道,提示此地区特有的遗传性致聋病因和此地区人群具有SLC26A4基因热点突变区域的高携带率。

Analysis of SLC26A4 Mutation in Severe in the Deafness Patients from the city of Anyang

Objective To investigate the incidence of hot spot mutations of SLC26A4(PDS) gene by genetic testing method in Anyang City,Henan.Methods DNAs were extracted from peripheral blood of 151 students of Anyang school for the Deaf.The common PDS hot spot mutations in Chinese population were analyzed by direct sequencing for Exon7 8,19,10,17,15 of PDS gene.Results The sequencing results revealed 48/151(31.79%)cases carrying PDS mutation,including 26 cases of bi-allelic mutations(17.22%),22 cases of single allelicmutation(14.57%).Conclusion The patients suffered form EVAS can be diagnosed by the screening for the PDS hot spot mutations.This has unique advantages for large scale epidemiologic study studies of deaf population.The high incidence of the SLC26A4 gene mutations in this study may imply a high carrying rate of SLC26A4 mutation in the general population of Anyang area.