Related Experiment Video
Updated: Jun 12, 2026
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy]
Qiong Liu1, Dong-yi Han, Yu-bin Ji
1Department of Otolaryngology, Head & Neck Surgery, Chinese PLA General Hospital, beijing, China. joanlq@sina.com
Aim:
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.
Conclusion:
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.
