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World’s largest newborn hearing-loss related genetic screen

Time:2013-09-17

 

CapitalBio, in association with six leading Beijing hospitals, recently undertook the world’s largest screen of babies born in Beijing Municipal Region in 2012 for 10 mutations in 5 genesassociated with congenital hearing defects using the CapitalBio Deafness Gene Mutation Detection Microarray Kit. Blood spot samples from over 240,000 newborns were analysed, indentifying more than 11,000 mutant alleles.  All positive mutations were confirmed by independent DNA sequencing.  This early screening facilitates medical intervention with genetically deaf children, while identifying and genotyping numerous at risk children prior to conventional auditory testing. Significantly, the survey found more than 610 babies with lesions in mitochondrial genes that confer sensitivity to aminoglycoside antibiotics which can cause irreparable deafness after limited exposure. The early identification of this genetic sensitivity will be used to avoid exposure of the child to these drugs throughout their lifetime. Importantly, other members of the maternal side of the child’s family will also carry the lesions, and the newborn screen could lead to numerous other affected persons to be identified and their hearing also preserved by strict avoidance of aminoglycoside antibiotics.
 
CapitalBio provided analysis instruments (BioMixer, SlideWasher, LuxScan 10KA), the CapitalBio Deafness Gene Mutation Detection Microarray Kits and developed dedicated informatics for the project.