Deafness
From March 2023 to March 2025, the research team of the Affiliated Hospital of Qinghai University strictly abided by ethical norms. With the full informed consent of the participants, the team systematically and continuously collected heel blood samples from multi-ethnic newborns living in areas at different altitudes, and successfully obtained 3,615 complete blood samples required for the study. Subsequently, high-throughput sequencing technology was applied to detect these samples, and accurate data on deafness susceptibility-related genes were obtained. During the analysis phase, the research team took altitude (low altitude, medium altitude, high altitude), ethnicity (Tibetan, Hui, Han, Salar, Tu, etc), and genotype (15 loci of 4 common deafness-causing genes: GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3) as the core dimensions. By comprehensively using statistical analysis and bioinformatics methods, a systematic multi-dimensional analysis was conducted to deeply explore the association characteristics between different factors and the carriage of deafness susceptibility genes.
Obtained written informed consent from the children's parents
Among the 549 collected newborn heel blood dried blood spot specimens, some were unqualified and cannot be used for subsequent testing