[Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy].
OBJECTIVE
To investigate if the OTOF gene contributes to the non-syndromic hearing loss of a Chinese pedigree with dominantly inherited auditory neuropathy (AN).


METHODS
The subjects included were 9 live individuals in an autosomal dominant AN pedigree, 3 sporadic AN patients and 3 normal-hearing controls. Genomic DNA was isolated from the peripheral leukocytes of the subjects using the Pure gene DNA Isolation Kits. Firstly, the whole coding sequence of OTOF gene of one family patient were PCR amplified using specific primers. Each fragment was purified and subsequently analyzed by direct sequencing in an Applied Biosystems 3 730 automated DNA sequencer. The resultant sequence data were compared with the standard sequence to identify deafness-associated mutations. Other DNA samples were then screened for these mutations by PCR amplification and sequence analysis.


RESULTS
PCR amplifications were successfully conducted in all the subjects. Comparison of the resultant OTOF sequence in one family patient with the standard sequence identified 10 nucleotide variants which do not lead to amino acid change. These mutations were also detectable in other family individuals, 3 sporadic AN patients and 3 normal-hearing controls.


CONCLUSIONS
The OTOF does not seem to contribute to the pathogenesis of this Chinese AN family, which suggest new gene(s) involvement.
Department of Otolaryngology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Shuai
S
Xu
Guangqian
G
Xing
Xin
X
Cao
Zhibin
Z
Chen
Hongbo
H
Cheng
Huiqin
H
Tian
Qinjun
Q
Wei
Xingkuan
X
Bu
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D025063:Chromosome Disorders / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017421:Sequence Analysis; D000160:Vestibulocochlear Nerve Diseases / Q000208:ethnology / Q000235:genetics*
D008565:Membrane Proteins; C118457:OTOF protein, human