中华耳科学杂志2024，Vol.22Issue(1)：109-113,5.DOI:10.3969/j.issn.1672-2922.2024.01.024
海南省黎族新生儿耳聋基因筛查分析
Genetic Screening in Ethnic Li Neonates in Hainan Province
摘要
Abstract
Objective To understand characteristics of deafness genes among the Li people and to provide data support for government decision-making on deafness prevention and management policies.Methods A cross-sectional study involving ethnic Li newborns from January 2021 to June 2021 in Hainan Province on a voluntary basis with in-formed consenting.Dried heel blood spots samples were collected,and the fluorescence PCR fusion curve was used to screen for 26 deafness gene loci commonly seen in China.According to the"Genetic Screening Standards for Hereditary Deafness",positive samples in screening and unknown mutations were sent for sequencing verification.Results The rate of deafness gene detection was 30.4%(607/1997)in this group of newborns,30.5%(300/983)in males and 30.3%(307/1014)in females(χ2 =0.014,P =0.906).Common mutations involved the GJB2(27.2%,544/1997),SLC26A4(2.3%,46/1997)and 12S rRNA(0.1%,2/1997)genes.Four mutations were not covered by the screening kit,i.e.c.235C>T and c.79G>A of the GJB2 gene,and c.1983C>A and c.1001+131G>T of the SLC26A4 gene.Conclusion The carrying rate of deafness genes is high among the Li people in Hainan Province,with c.109G>A,c.1983C>A and c.235delC be-ing the mutation hotspots.Early neonatal deafness gene testing among the Li people in Hainan Province is an effective and important tool to ensure the quality of life among the Li population.关键词
新生儿/干血斑/聋/基因/黎族Key words
newborn/dried blood/deaf/genes/li引用本文复制引用
赵振东,许海珠,谢蔓芳..海南省黎族新生儿耳聋基因筛查分析[J].中华耳科学杂志,2024,22(1):109-113,5.基金项目
海南省自然科学基金(822RC856) （822RC856）
海南省卫生健康科技创新联合项目(WSJK2024MS174) （WSJK2024MS174）
海南省卫生健康行业科研项目(21A200009) （21A200009）
海南省临床医学中心建设项目资助[琼卫医函(2021)75号] （2021）
