[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].
OBJECTIVE
To analyze the mutations of AQP3 gene for the purpose of identifying the causative gene located in DFNA55 locus in a Chinese pedigree with autosomal dominant nonsyndromic deafness (DeaFNess Autosomal, DFNA).


METHODS
There were 21 DNA sample in this pedigree, among whom 9 were patients and 12 had normal hearing. The coding sequences of AQP3 gene were amplified by polymerase chain reaction (PCR) with 5 pairs of primers, and PCR product s bidirectional sequencing were performed and analyzed with DNA Star Software.


RESULTS
Two point mutations were detected. The first mutant point was 390C>T/390C>T(F130F) nexon 4 all members in pedigree. The second mutant point was 394G>A/WT(D132N), which were found in 3 patients and 1 member with normal hearing.


CONCLUSIONS
We found two point mutations that one caused no amino acid changed and the other caused D132N, but AQP3 gene isn't the responsible gene for this pedigree with auditory neuropathy.
Liu
Qiong
Q
Department of Otolaryngology, Head & Neck Surgery, Chinese PLA General Hospital, beijing, China. joanlq@sina.com
Han
Dong-yi
DY
Ji
Yu-bin
YB
Li
Jian-qiang
JQ
Lan
Lan
L
Zhao
Cui
C
Wang
Qiu-ju
QJ
D051400:Aquaporin 3 / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
D051400:Aquaporin 3