Screening results of deafness gene mutations in 4 679 newborns in Nanning
DU Juan
XU Juan-juan
HUANG Ping-li
FU Hua-yu
Abstract：Objective To understand the newborns ' carrying situation of the mutation of deafness-related genes in Nanning. Methods Samples of heel blood were collected from 4 679 newborns in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region who were born in 3-5 days. DNA samples were extracted and detected by Matrix-assis-ted Laser Desorption-Ionization Time of Flight Mass Spectrometry ( MALDI-TOF-MS ) , including 20 mutation sites of 4 deafness-related genes ( GJB2, GJB3, SLC26A4 and 12SrRNA). Results Among 4 679 newborns, 143 cases (3. 056%) were detected with 13 mutation types, which included 76 cases of GJB2 (235delC, 299_300delAT, 176_191del16) gene mutation, 5 cases of GJB3 (538C>T, 547G>A) gene mutation, 48 cases of SLC26A4 ( IVS7-2A>G, 1174A>T, 1229C>T, 1975G>C, 2027T>A, 2168A>G) gene mutation and 14 cases of 12SrRNA (1555A>G) gene mutation. Conclusion The mutation of deafness-related gene screening in neonates may be useful in early detection of de-layed deafness and it helps for the prevention and control of hearing impairment.
Keywords：deafnesscongenital diseasesdeafness genesgene mutationgenetic screeningnewborn
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 17-19 )