摘要
Abstract
To report universal deafness gene screening among newborns in Jining for evaluating carrying status of deafness genes, and discuss models of universal screening at local maternal and children care facilities. Methods Deafness gene screening was administered to 38,903 newborns at maternal care centers in Jining between mid-April and mid-November, 2015. Blood samples were collected as part of screening that included another 29 hereditary and metabolism diseases. Deafness gene screening data completed from 2013 and hearing screening data in 2015 were used as controls. Matrix-Assisted Laser Desorption Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) was used to detect four common deafness genes including twenty hot mutation points [GJB2 (35delG, 167delT, 176_191de116, 235delC and 299_300delAT), GJB3 (538C→T and 547G→A), SLC26A4 (281C→T, 589G→A, IVS7-2A→G, 1174A→T, 1226G→A, 1229C→T, IVS15+5G→A, 1975G→C, 2027T→A, 2162C→T and 2168A→G), 12S rRNA (1494C→T and 1555A→G)]. Auto auditory brainstem response (AABR) testing was used to screen, and acoustic im-pedance, otoacoustic emissions, auditory brainstem responses and 40Hz-AERPs were used to complete diagnosis. The diagnosis time was under 3 months of age. Results The rate of screening of the 30 diseases including deafness was higher than that of deafness gene screening alone (P<0.001). Gene mutations were detected in 2179 cases (5.60%, 2179/38903), including homozygote GJB2 mutations (n=8), compound heterozygote GJB2 mutations (n=6), heterozygote GJB2 mutations (n = 1028), heterozygote GJB3 mutations (n = 162), homozygote SLC26A4 mutations (n = 2), com-pound heterozygote SLC26A4 mutations (n = 6), heterozygote SLC26A4 mutations (n = 843), homogeneous 12SrRNA mutations (n = 85), and heterogeneous12SrRNA mutations (n = 11). Total mutation carrier frequency was 2.68% for GJB2, 0.42%for GJB3, 2.19%for SLC26A4 and 0.25%for 12SrRNA. Simultaneous detection of GJB2 and SLC26A4 mu-tations were identified in 18 cases, GJB2 and GJB3 mutations in 2 cases, GJB3 and SLC26A4 mutations in 3 cases, SLC26A4 and 12SrRNA mutations in 4 cases, and GJB2, SLC26A4 and 12SrRNA mutations in 1 case. GJB2 167delT,TT mutation was not found. Recalls were made for 1557 neonates carrying gene mutations. The follow-up rate (71.45%, 1557/2179) was lower than that in the hearing screening group (95.14%, 431/453) (P<0.001). Permanent hearing loss was confirmed in 25 cases within 3 months. Conclusion Deafness gene screening is more acceptable to parents if ad-ministered as part of screening with other 29 hereditary and metabolic diseases. Follow-up should be enforced on deaf-ness gene carriers. Mutation points being screened may be optimized.关键词
新生儿/听觉损失/耳聋基因/普遍筛查Key words
Newborn/Hearing loss/Deafness gene/Universal screening分类
医药卫生
