变性高效液相色谱法分析非综合征型耳聋人群SLC26A4基因突变

目的 研究非综合征型耳聋(nonsyndromic hearing loss,NSHL)患者SLC26A4基因的突变情况,为临床上NSHL患者基因诊断提供指导.方法 PCR分别扩增SLC26A4基因的21个外显子及其侧翼序列,所得目的 片段用变性高效液相色谱(denaturing high-performance liquid chromatorgraphy,DHPLC)进行突变筛查,有异常峰形的样本进行DNA测序.结果 在所选30例无血缘关系且GJB2基因检测未发现突变的NSHL患者中,共检测出10种SLC26A4基因变异,其中包括7种已知突变,2种未见报道的新突变(F572L和D87Y),及一种已知多态(Ivs11+47T＞C),其中Ivs7-2A＞G是最常见的突变,约占总突变的40%.结论 SLC26A4基因为仅次于GJB2的导致NSHL的相关基因,在(GJB2基因检测未发现突变的NSHL人群中SLC26A4基因的检出率达到23.3%,其中Ivs7-2A＞G是其最常见的突变.

Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high performance liquid chromatography

Objective To study the SLC26A4 gene mutations in patients with nonsyndromie hearing loss(NSHL)and provide the clinical guidance of gene diagnosis.Methods PCR and denaturing high performance liquid chromatography(DHPLC)were used to screen the 21 exons and their flanking regions of the SLC26A4 gene.Samples with abnormal DHPLC wave patterns were sequenced to identify the variations.ResultsAmong the 30 unrelated NSHL patients in whom no deafness-causing mutations of the GJB2 gene were identified,10 types of variations were detected,including 7 known mutations,2 novel mutations(F572L and D87Y),and 1 known polymorphism(Ivs11+47T＞C).The Ivs7-2A＞G is the most common type of variation,accounting for 40%of all the mutations.Conclusion SLC26A4 mutation is a major cause of NSHL,just next to the GJB2 mutations.For NSHL patients without deafness-causing GJB2 mutations,the SLC26A4 mutation rate was 23.3%,and the Ivs7-2A＞G was the most common mutation.