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.