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目的进行全国范围的 SLC26A4基因 IVS7-2 A>G 突变的分子流行病学调查,为大前庭水管综合征的快速筛查和临床基因诊断提供证据。方法应用自主研制的 SLC26A4基因 IVS7-2A>G 突变检测试剂盒对来自全国不同省市的1979例散发的非综合征性聋患者进行 IVS7-2 A>G 突变筛查,比较不同地区、民族的 IVS7-2 A>G 突变携带频率。结果在中国大陆不同地区1979例耳聋患者中发现 SLC26A4 IVS7-2A>G 纯合突变90例,杂合突变155例,总的携带率12.38%。不同地区间的携带率比较差别有统计学意义(x~2=34.4899,P<0.05),华中地区最高,西南地区最低;不同民族比较差别有统计学意义(x~2=35.4456,P<0.05),汉族携带率最高为13.88%,藏族最低携带率为0。不同民族间的两两比较汉族与我国西部地区的少数民族比较差别有统计学意义,西部地区少数民族之间比较差别无统计学意义。结论中国非综合征性聋患者中 IVS7-2A>G 突变携带率相当高,中国不同地区、民族间 SLC26A4基因 IVS7-2 A>G 突变可能存在明显的差异,SLC26A4的基因诊断可作为大前庭水管综合征的快速筛查方法。
Objective To carry out a molecular epidemiological investigation of IVS7-2 A> G mutation in SLC26A4 gene nationwide to provide evidence for the rapid screening and clinical gene diagnosis of aquaporin syndrome. Methods A total of 1979 patients with non-syndromic deafness distributed in different provinces and cities of China were screened for IVS7-2 A> G mutation using the self-developed SLC26A4 gene IVS7-2A> G mutation test kit to compare different regions and ethnic groups IVS7-2 A> G mutation carrying frequency. Results Ninety-nine patients with deafness in different areas of mainland China found 90 cases of SLC26A4 IVS7-2A> G homozygous mutation and 155 cases of heterozygous mutation with a total carrier rate of 12.38%. (X ~ 2 = 34.4899, P <0.05), the highest in Central China and the lowest in Southwest China. The differences among different ethnic groups were statistically significant (x ~ 2 = 35.4456, P <0.05) ), Han up to 13.88% carrying rate, Tibetan minimum carrying rate of 0. The comparison between ethnic groups is not statistically significant. The differences between ethnic minorities in the western region are not statistically significant. Conclusion The prevalence of IVS7-2A> G mutation in Chinese patients with non-syndromic deafness is quite high. There may be significant differences in the IVS7-2 A> G mutation of SLC26A4 among different ethnic groups in China. The genetic diagnosis of SLC26A4 can be used as a large vestibular aqueduct Rapid screening of syndromes.