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目的 进行Y连锁遗传性聋(Y linkedhereditaryhearingimpairment)家系的候选基因———POU3F4基因的突变分析。方法 在POU3F4基因的全部编码序列设计5对引物进行聚合酶链反应(polymerasechainreaction,PCR)扩增反应。应用PCR 单链构像多态性(single strandconformationpolymorphismSSCP)方法对DFNY1家系中的43名成员进行突变检测及鉴定。结果POU3F4基因的5对引物均有较好的扩增效果,PCR SSCP的多态性分析显示所有家系成员在POU3F4基因中均未检测到多态及突变。结论 本研究通过对一个位于X染色体与Y染色体存在同源交换区域的耳聋基因POU3F4基因的检测排除了该基因易位到Y染色体导致DFNY1家系耳聋的可能性,说明中国Y连锁遗传性聋家系的致病基因更多可能是位于Y染色体上的基因突变所致。
Objective To analyze the mutation of POU3F4 gene, a candidate gene of Y linked hereditary hearing impairment family. Methods Five pairs of primers were designed to amplify the entire coding sequence of POU3F4 gene by polymerase chain reaction (PCR). A total of 43 members of the DFNY1 pedigree were tested for mutation by PCR single strand conformation polymorphism SSCP. Results Five pairs of primers of POU3F4 gene had good amplification results. PCR SSCP analysis showed no polymorphism and mutation were found in all POU3F4 genes. Conclusion In this study, the detection of POU3F4 gene, a deafness gene located in the homologous exchange region between X chromosome and Y chromosome, ruled out the possibility of translocation of the gene into Y chromosome and deafness of DFNY1 family, indicating that the Chinese Y-linked hereditary deafness family Pathogenic genes are more likely to be caused by mutations in the Y chromosome.