Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population.
OBJECTIVE
To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient' s language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population.


METHODS
A molecular genetic assay, based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques, was developed to detect both mutations simultaneously.


RESULTS
This assay was able to detect both mutations from patient's samples, and pooled DNA tests, as well as suitable to detect mutation from the DNA extracted from dried blood spot and buccal swab.


CONCLUSIONS
This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.
He
Xi-yu
XY
Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688, USA.
Wang
Yue-ying
YY
Dai
Pu
P
Gu
Jiang
J
Chen
Tian-jian
TJ
D000617:Aminoglycosides / Q000009:adverse effects*; D002681:China; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening
D000617:Aminoglycosides; D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26