tailieunhanh - Báo cáo hóa học: " Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics | Shen et al. Journal of Translational Medicine 2011 9 4 http content 9 1 4 TRANSLATIONAL MEDICINE RESEARCH Open Access Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics 1 2 3 - - 71 2 2 71 Zhisen Shen Jing Zheng Bobei Chen Guanghua Peng Ting Zhang Shasha Gong Yi Zhu 3 6 6 1 1 1 2 Chuqin Zhang Ronghua Li Li Yang Jianjin Zhou Ting Cai Lihua Jin Jianxin Lu Min-Xin Guan Abstract Background Aminoglycoside ototoxicity is one of the common health problems. Mitochondrial 12S rRNA mutations are one of the important causes of aminoglycoside ototoxicity. However the incidences of 12S rRNA mutations associated with aminoglycoside ototoxicity are less known. Methods A total of 440 Chinese pediatric hearing-impaired subjects were recruited from two otology clinics in the Ningbo and Wenzhou cities of Zhejiang Province China. These subjects underwent clinical genetic evaluation and molecular analysis of mitochondrial 12S rRNA. Resultant mtDNA variants were evaluated by structural and phylogenetic analysis. Results The study samples consisted of 227 males and 213 females. The age of all participants ranged from 1 years old to 18 years with the median age of 9 years. Ninety-eight subjects 58 males and 40 females had a history of exposure to aminoglycosides accounting for cases of hearing loss in this cohort. Molecular analysis of 12S rRNA gene identified 41 39 known and 2 novel variants. The incidences of the known deafness-associated 1555A G 1494C T and 1095T C mutations were and in this entire hearing-impaired subjects respectively and 2 and 2 among 98 subjects with aminoglycoside ototoxicity respectively. The structural and phylogenetic evaluations showed that a novel 747A G variant and known 839A G 1027A G 1310C T and 1413T C variants conferred increased sensitivity to aminoglycosides or nonsyndromic deafness as they were .