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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(solutecarrierfamily26,member4;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 determine the causative gene of a non-syndromic deafness pedigree. Methods All exons of solute transporter family 26, member 4 (SLC26A4) gene and the junction with introns were sequenced by polymerase chain reaction direct sequencing. Results In this pedigree, the heterozygous mutation of N392Y and S448X in SLC26A4 gene and the heterozygous mutation of S448X in the father and heterozygous mutation of N392Y in her mother were found. Conclusion The heterozygous mutation of N392Y and S448X in SLC26A4 gene causes the deafness of the probands.