OBJECTIVE To investigate the
deafness-related
gene mutation frequency and hotspots in
patients of Fuzhou city with non-syndromic
hearing loss (NSHL).
METHODS Peripheral
blood samples were obtained from 88 cases of
patients with
hearing loss after clinical
history inquiry and clinical examination. Their genomic
DNA was extracted from peripheral
blood by extraction kits to undergo
polymerase chain reaction, traditional
capillary electrophoresis sequencing and
High-throughput sequencing so as to detect the
mutations of
deafness-related
gene. RESULTS Among the 88
patients with NSHL, the
gene mutation frequency was 34.09%.In the
patients, 14 cases had mitochondrial 12 S rRNA
mutations, six cases had GJB2
gene mutations and three cases had SLC26A4
mutations, two cases had MYO15A
mutations, the other five cases had MYO7A, OTOF, TECTA, TMC1 and ILDR1
gene mutation respectively. CONCLUSION Among the 88
patients with NSHL, the most frequent
mutation causing hereditary deadness was
mutation in mitochondrial 12 S rRNA, followed by GJB2 and SLC26A4, The other
genes such as MYO7A, OTOF, TECTA, TMC1 and ILDR1
gene were infrequent. The study could provide theoretical reference in genetic
diagnosis, prevention and
cure of
hearing loss.