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| 1 | Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss显示文摘To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics. | LIU Xin,1 DAI Pu,1* HUANG Deliang,1 YUAN Huijun,1 LI Weiming,1 YU Fei,1 ZHANG Xin,1 KANG Dongyang,1 CAO Juyang,1 YANG Weiyan,1 HAN Dongyi,1 JIN Zhengce2, GUAN Minxin3 1. Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China2. Weihai Aomaier Gene Technological CO.,LTD.,Weihai,Shandong 264200, China.3. Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA | 2006 | Journal of Otology2006，1，1： | 7 |
| 2 | Molecular pathogenetic mechanism of maternally inherited deafness显示文摘 | GUAN Min - XinDivision and Program in Human Genetics and Center for Hearing and Deafaess Research,Cincinnati Children’s Hospital Medical Center, and Department of Pediatrics, Universityof Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2003 | 中华耳科学杂志2003，1，3： | 6 |
| 3 | Human Genomics in China——Ten Years Endeavor:From Planning to Implementation显示文摘Ten years ago, the Chinese National Human Genome Center at Shanghai (South Center,hereafter) was established in the Zhangjiang | CHEN Zhu and ZHAO Guo-Ping MOST-Shanghai Key Laboratory of Disease and Health Genomics The Chinese National Human Genome Center at Shanghai The People’s Republic of China | 2009 | Science China(Life Sciences)2009，52，1： | 6 |
| 4 | Statistical Communiqué on Human Resources and Social Security Development in 2013显示文摘In 2013,under the strong leadership of the Central Committee of the Party and the State Council and with the focus on major objectives of the Party and the state,China adhered to the main work line of orienting by people’s livelihood and giving priority to talents;laid equal emphasis on both normal operation and internal construction;comprehensively promoted scientific development,reform and innovation of human resources and social security undertakings | Ministry of Human Resources and Social Security of People’s Republic of China | 2014 | China Population Today2014，31，6： | 4 |
| 5 | Mitochondrial DNA Mutations Associated with Aminoglycoside Ototoxicity显示文摘The mitochondrial 12S rRNA has been shown to be the hot spot for mutations associated with both aminoglycoside-induced and non-syndromic hearing loss. Of all the mutations, the homoplasmic A1555G and C1494T mutations at a highly conserved decoding region in the 12S rRNA have been associated with aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. The A1555G or C1494T mutation is expected to form novel 1494C-G1555 or 1494U-A1555 base-pair at the highly conserved A-site of 12S rRNA. These transitions make the secondary structure of this RNA more closely resemble the corresponding region of bacterial 16S rRNA. Thus, the new U-A or G-C pair in 12S rRNA created by the C1494T or A1555G transition facilitates the binding of aminoglycosides, thereby accounting for the fact that the exposure to aminoglycosides can induce or worsen hearing loss in individuals carrying these mutations. Furthermore, the growth defect and impairment of mitochondrial translation were observed in cell lines carrying the A1555G or C1494T mutation in the presence of high concentration of aminoglycosides. In addition, nuclear modifier genes and mitochondrial haplotypes modulate the phenotypic manifestation of the A1555G and C1494T mutations. These observations provide the direct genetic and biochemical evidences that the A1555G or C1494T mutation is a pathogenic mtDNA mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside antibiotic therapy, and eventually to decrease the incidence of deafness. | GUAN Min-Xin Division of Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2006 | Journal of Otology2006，1，2： | 3 |
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| 9 | Expression of telomerase aeocalized epithelial glandular cells and regulated in a menstrual phase-dpendent manner correlated with cell proliferation显示文摘 | Tanaka M Kyo S Takllra M et tivity in human endometrim is al | 1998 | Am J Path1998，153，： | 1 |
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