Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population
- VernacularTitle:一种筛查中国人遗传性耳聋和氨基糖苷耳毒性易感人群的分子遗传学方法
- Author:
Xiyu HE
;
Yueying WANG
;
Pu DAI
;
Jiang GU
;
Tianjian CHEN
- Publication Type:Journal Article
- Keywords:
Molecular screening;
Hereditary hearing loss;
DNA,mitochondrial
- From:
Journal of Peking University(Health Sciences)
2005;37(1):51-54
- CountryChina
- Language:Chinese
-
Abstract:
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. Conclusion: This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.
