甘肃地区多民族耳聋基因筛查结果分析  

Analysis of the Results of Genetic Screening for Deafness among Multi-ethnic Groups in Gansu

作　　者：马斌[1] 孙小红[2] 郝胜菊[1] 张庆华[1] 周秉博 惠玲 吴琴 李婕[2] 张钏[1] Ma Bin;Sun Xiaohong;Hao Shengju;Zhang Qinghua;Zhou Bingbo;Hui Ling;Wu Qin;Li Jie;Zhang Chuan(Medical Genetics Center,Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃省出生缺陷与罕见病临床研究中心,兰州730050 [2]兰州市妇幼保健院遗传室

出　　处：《听力学及言语疾病杂志》2023年第2期131-134,共4页Journal of Audiology and Speech Pathology

基　　金：甘肃省科技计划(21JR7RA680,21JR1RA045);甘肃省妇幼保健院重大攻关项目(2021);兰州市人才创新创业项目(2018-RC-42);兰州市科技计划项目(2021-1-182)资助。

摘　　要：目的 分析甘肃地区汉、回、藏族耳聋基因筛查人群常见耳聋基因突变情况。方法 以2019年1月至2021年12月于甘肃省妇幼保健院医学遗传中心行耳聋基因筛查的1 718例受试者为研究对象,采用耳聋基因芯片技术对4个耳聋常见基因的13个热点突变位点进行检测。结果 1 718例耳聋基因筛查人群中197例检出突变,总突变率为11.46%,其中,GJB2:6.17%,SLC26A4:3.96%,MT-RNR1:0.93%,GJB3:0.17%,复合杂合突变:0.23%。在各民族中均能检测到GJB2、SLC26A4及MT-RNR1基因的突变,其中GJB2基因在汉、回、藏各民族中检出率最高,分别为:54.17%、50%、66.67%,其次为SLC26A4基因及MT-RNR1基因;GJB3基因突变仅在汉族人群中检测到。各民族中突变频率最高的位点为GJB2基因的c.235delC位点,其次为SLC26A4基因的c.919-2A>G位点。结论 GJB2和SLC26A4是本组甘肃地区各民族人群中常见的耳聋基因,GJB2基因c.235del C及SLC26A4基因c.919-2A>G是热点突变位点。Objective To study the common deafness gene mutations in the Han, Hui and Tibetan deafness screening population in Gansu. Methods A total of 1 718 individuals who underwent deafness gene screening at the Medical Genetics Center of Gansu Maternal and Child Health Hospital from January 2019 to December 2021 were collected as research subjects, and 13 mutation sites of 4 deafness genes were detected by deafness gene chip technology. Results Mutations were detected in 197 of the 1 718 deafness screening populations, with an overall mutation rate of 11.46%. Among them, GJB2: 6.17%, SLC26A4: 3.96%, MT-RNR1: 0.93%, GJB3: 0.17%, compound heterozygous mutation: 0.23%. Mutations of GJB2, SLC26A4 and MT-RNR1 genes were detected in Han, Hui and Tibetan, among which GJB2 gene had the highest detection rate, followed by SLC26A4 and MT-RNR1 54.17%, 50% and 66.67% respectively. Mutations in GJB3 were only detected in the Han population. The site with the highest mutation frequency among all ethnic groups was the c.235delC site of GJB2, followed by the c.919-2A>G site of SLC26A4. Conclusion GJB2 and SLC26A4 are the main deafness genes in all ethnic groups in Gansu, among which c.235del C and c.919-2A>G are key mutation sites.

关 键 词：耳聋 基因突变 筛查 民族 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]