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| Investigation on Genetic Screening of Neonates With Hereditary Deafness and Mutation Rate of Deafness Genes |
| Guo Jia, Zhang Airong, Liu Wanyu |
| Department of Medical Laboratory Science,Zhumadian Central Hospital,Zhumadian 463000,China |
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Abstract Objective To investigate the genetic screening of hereditary deafness in newborns and the mutation rate of deafness genes. Methods 148 newborns with normal delivery were selected from the Department of Obstetrics and Gynecology of our hospital,and the peripheral blood of the newborns behind the heel was collected,and the DNA in the blood spots was extracted.Four clinically common genes related to deafness and 9 mutation sites were tested. Results The blood samples of 148 newborns showed that there were 9 cases of single-gene and single-heterozygous mutations in the neonatal deafness gene,and the carrying rate was 6.08%,including 6 cases（4.05%）of heterozygous mutations in the GJB2 gene;heterozygous mutations in the SLC26A4 gene 3 cases（2.03%）. Conclusion Genetic screening of hereditary deafness and the mutation rate of deafness genes can be used as an important supplement to newborn hearing function screening,which is beneficial to detect late-onset and potential deaf children,so as to implement early treatment intervention and target carrier marriage And fertility has guiding significance.
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Received: 06 July 2021
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2022, Vol. 42 
