一个中国耳聋家系的SLC26A4基因分析

摘要

目的确定一个非综合征型耳聋家系的致病基因.方法应用聚合酶链反应-直接测序方法,对溶质转运蛋白家族26,成员4 (solute carrier family 26, member 4; SLC26A4)基因的所有外显子及其与内含子交界处进行测序寻找突变.结果在该家系先证者发现 SLC26A4基因的N392Y、S448X复合杂合突变,其父亲为S448X的杂合突变,其母亲为N392Y的杂合突变.结论SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因.%Objective To identify the pathogenic gene for a non-syndromic hearing loss family. Methods Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene. Results Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother. Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.