中国Y连锁遗传性聋DFNY1家系POU3F4基因突变的检测

目的进行Y连锁遗传性聋(Y—linked hereditary heating impairment)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(polymerase chain reaction，PCR)扩增反应。应用PCR-单链构像多态性(single-strand conformation polymorphism SSCP)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—SSCF，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。

Detection of POU3F4 gene mutations in the Chinese pedigree with Y-linked hereditary hearing impairment

Objective To analyze the mutations of candidate POU3F4 gene in the Chinese pedigree with Y linked hereditary hearing impairment. Methods Polymerase chain reaction (PCR) reactions were performed with five pairs of primer in the coding sequence of POU3F4 gene. PCR-single-strand conformation polymorphism (PCR-SSCP) was subsequently applied in the 43 individuals of DFNY1 family for screening the gene mutations. Results The PCR amplification fragments showed well quality in the five pairs of primer and further analysis with PCR-SSCP showed no any polymorphism and mutations in the members. Conclusions The possibility of the deafness gene POU3F4, which locates on the translocation region on X and Y chromosome, contributed to the Y linked family deafness was successfully ruled out. It may imply that the causal gene of the DFNY1 family locate on the Y chromosome.