银川市51394名新生儿遗传性耳聋基因检测结果分析

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Analysisof genetictestresultsof51394 neonateswithhereditarydeafnessinYinchuancity

Wang Yang， Guo Wen，Yang Tingting， Zhao Juanping，Han Lei， Fang Yongqing ClinicalLaboratory，YinchuanMaternalandChild HealthCareHospital，Yinchuan75o04，China

【Abstract】 Objective To analyze the carrying of genes related to hereditary deafnessin neonates in Yinchuan City，and toprovidereference forlater treatment.MethodsThe heeblood samplesof51394 newborns in Yinchuan City from January 2O22 to December 2023 were collected，and four deafnessgenes （GJB2，GJB3， SLC26A4 and mitochondrial 12SrRNA）were detected using 15 genetic deafness gene detection kits.The diffrences of gene mutation detectionrate in gender，year，Han nationality and Hui nationality were analyzed.Results Among 51 394 neonates，2 608 cases （5.07% ）carried 4 common deafness genes.Among them，GJB2 accounted for 2.83% （1 453/51 394）， GJB3 accounted for 0.24% （123/51 394）， SLC26A4 accounted for1.62% （835/51 394） and mitochondrial 12SrRNA accounted for 0.38% （197/51 394）. The mutation rate of four deafness genes in 2022 was （20 4.21% （1 090/25 907） compared with 5.96% （1 518/25 487） in 2023 （ χ =81.552， P<0.001 ）. The mutation rate of fourdeafnessgenes in Hui neonates was 5.78% （7O6/122O6）higher than that in Han neonates 5.08%（1902/37 461） χ2 =9.243， P =0.002）.The mutation rate of 4 kinds of deafness genes was 4.92%（1 332/27 044） in27 044 male neonates and 5.24%（1 276/24 350）in 24 350 female neonates （ χ =2.638， P =0.104）. Conclusion There were some differences in the mutation rates of 4 kinds of deafness genes among newborns in Yinchuan city in different years and between Hui and Han nationalities.The timeand racecharacteristics of deafnessgene mutationcan beused as abasisforthe improvementoflatertreatment.

【Key words】 A newborn; Deafness gene mutation; Mutation rateDOI：10.19522/j.cnki.1671-5098.2025.05.011

遗传性耳聋是影响新生儿群体健康和导致残疾的常见原因。（剩余5505字）