He Ling, Feng Defeng, Zhang Liang, Liu Chang, He Tianwen, Yin Aihua
Guangdong Women and Children's Hospital Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 511442, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):351-356. doi: 10.3760/cma.j.issn.1003-9406.2018.03.010.
To assess the value of suspension array technology (SAT) for the genetic diagnosis of non-syndromic hearing loss (NSHL).
Three hundred and sixteen NSHL patients were simultaneously tested by SAT targeting 20 hotspot mutations within 4 common pathologic genes among the Chinese population as well as 9 deafness gene mutation detection kits. The results of the two approaches were validated by Sanger sequencing.
Among the 316 patients, 161 were found to carry a mutation by SAT. Sixty five patients have carried homozygous or compound heterozygous mutations, which yielded a mutation rate of 50.9% and a diagnostic rate of 21.2%. Seventy three patients were found to be carriers by the 9 deafness gene mutation detection kits. These included 34 patients carrying homozygous or compound heterozygous mutations, which yielded a mutation rate of 23.1% and diagnostic rate of 11.4%. Above results were consistent with those of Sanger sequencing.
SAT is a simple, rapid and accurate method featuring high detection rate for common mutations related to deafness among the Chinese population and has provided an effective means of genetic testing for hereditary deafness.
