儿童氨基糖苷类药物性耳聋基因快速无创检测法的应用

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Abstract Objective: To probe the application of a fast and noninvasive method for testing the mutations A1555G and C1494T associated with aminoglycoside-induced hearing loss in children. Methods: A total of 126 non-syndromic sensorineural deafness patients aged 2 to 15 were selected for collecting oral swabs and venous blood from the First Affiliated Hospital of Wenzhou Medical University during May 2015 to May 2017. Multiplex allele-specific PCR was used to test the mutations of A1555G and C1494T in DNA from oral swabs. Simultaneously, Sanger sequencing was used to detect the mutations of A1555G and C1494T in the DNA of vein blood to verify the reliability of the former by Kappa testing. Results: The detection rate of A1555G and C1494T mutations in DNA from oral swabs detected by multiplex allele-specific PCR was 6.35% (8/126), including 7 cases of A1555G mutations and 1 cases of C1494T mutation. The testing rate of Sanger sequencing was also 6.35% (8/126), and the two methods were in a good consistency checking (kappa=1, P<0.01). Conclusion: The testing of A1555G and C1494T mutations with multiplex allele-specific PCR in DNA from oral buccal swabs is a simple, rapid and non-invasive method to provide another option for the testing of aminoglycoside-induced deafness in infants and newborns.

Key words： oral buccal swab aminoglycoside-induced hearing loss multiplex allele-specific PCR non-invasive

Received: 26 May 2018

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	ZHANG Qiongmin
	LI Sisi
	CHEN Jun
	ZHU Yi

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https://xb.wmu.edu.cn/EN/ OR https://xb.wmu.edu.cn/EN/Y2018/V48/I11/791

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