Mutation screening of 751 neonatal hereditary deafness in northwest district
Yang Xiao, Peng Wei, Ma Ning, et al
National Engineering Laboratory for Birth DefectsPrevention and Control of Key Technology Beijing Key Laboratory of Pediatric Organ Failure, Bayi Children’s Hospital, the Seventh Medical Center of PLA General Hospital, Beijing 100700, China
Abstract: 【Abstract】 Objective To study the carrier rate and mutation type of deafness susceptibility gene in northwest district and to explore the clinical value of deafness gene screening in early diagnosis and control of neonatal hereditary deafness. Methods The heel blood of 751 neonates was collected in northwest district. Fifteen Deafness-Related Gene Mutations Detection Kit (microarray chip) were used to screen 4 common deafness gene mutations and 15 mutation sites in Chinese people. Results In 751 neonates, 39 cases (5.18%) had deafness gene mutations. They included 19 cases (2.53%) with GJB2 mutations, 16 cases (2.12%) with SLC26A4 mutations, 4 cases(0.53%)with mtDNA 12SrRNA gene mutations. Among the 279 newborns born in Xinjiang, 11 cases were found to have mutations in the deafness gene, with a mutation carryingrate of 3.95%. Among 277 newborns born in Gansu province, 12 cases of deafness gene mutation weredetected, with a mutation carrying rate of 4.32%. Among 178 newborns born in Shanxi province, 12 cases of deafness gene mutation were detected, with a mutation carrying rate of 6.74%. Among the 17 neonates born in Qinghai province, 4 cases of deafness gene mutation were detected, with a mutation carrying rate of 23.52%. Conclusions The carrier rate of deafness gene is higher but the carrier rate of GJB2 235 del C islower in northwest district. The mutation carrying rate of neonatal deafness in northwest China is high, but the mutation carrying rate of GJB2 235 del C is low, which may be related to the regional characteristics and population genetic characteristics of northwest China. Neonatal deafness gene screening for hearing screening has perfect complementary role, which can help to found late-onset deafness and drug sensitivity of deafness high-risk neonates can be found from the level of gene.
2020, Vol. 8 
