Application of suspension array technology for the genetic diagnosis of non-syndromic hearing loss / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of suspension array technology (SAT) for the genetic diagnosis of non-syndromic hearing loss (NSHL).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>