Genetic Screening in Ethnic Li Neonates in Hainan Province

ZHAO Zhendong; XU Haizhu; XIE Manfang

doi:10.3969/j.issn.1672-2922.2024.01.024

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.