Detection of POU3F4 gene mutations in the Chinese pedigree with Y-linked hereditary hearing impairment.
- Author:
Qui-Ju WANG
1
;
Dong-Yi HAN
;
Wei-Yan YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; genetics; Child; DNA Primers; Deafness; genetics; Female; Genetic Diseases, Y-Linked; genetics; Humans; Male; Middle Aged; POU Domain Factors; genetics; Pedigree; Point Mutation; Polymorphism, Single-Stranded Conformational; Young Adult
- From: Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2005;40(5):323-326
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the mutations of candidate POU3F4 gene in the Chinese pedigree with Y linked hereditary hearing impairment.
METHODSPolymerase 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.
RESULTSThe 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.
CONCLUSIONSThe 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.
