[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.
Wang
Qui-Ju
QJ
Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese PLA General Hospital, Beijing 100853, China. wqcr@263.net
Han
Dong-Yi
DY
Yang
Wei-Yan
WY
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D017931:DNA Primers; D003638:Deafness / Q000235:genetics*; D005260:Female; D050174:Genetic Diseases, Y-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D050809:POU Domain Factors / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
D017931:DNA Primers; D050809:POU Domain Factors; C091774:POU3F4 protein, human