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The Mitochondrial trnaGlu A14693G Mutation May Influence the Phenotypic Manifestation of Deafness-Associated 12S rRNA A1555G Mutation in a Chinese Family

The Mitochondrial tRNAGlu A14693G Mutation May Influence the...

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中国遗传学会第八次代表大会暨学术讨论会

作者： Yu Ding~1 Jian Xin Lu~1 Bo Bei Chen~2 Yong Yan Li~1 Jun Yan You~1 Li Yang~3 Min-Xin Guan~(1,3,4) 1.Zhejiang Provnical Key Laboratory of Medical Genetics,Wenzhou Medical College,Wenzhou,Zhejiang 325035,China 2.Department of Otolaryngology,the Second Affiliated Hospital of Wenzhou Medical College,Wenzhou,Zhejiang 325027,China 3.Division and Program in Human Genetics and Center for Hearing and Deafness Research,Cincinnati Children’s Hospital Medical Center,Cincinnati,Ohio,OH 45229,USA 4.Department of Pediatrics,University of Cincinnati College of Medicine,Cincinnati,Ohio,OH 45229,USA

Mutations in mitochondrial DNA(mtDNA)have been found to be associated with sensorineural hearing *** report here on the clinical,genetic,and molecular characterization of a four generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing loss including bilateral,severity, age-at-onset and audiometric configuration in these *** penetrance of hearing loss in this family is 26%,while the aminoglycoside is excluded,the penetrance is 11%.Sequence analysis of the complete mitochondrial DNA in this pedigree showed the presence of the deafness-associated 12S rRNA A1555G mutation,in addition to distinct sets of mtDNA polymorphism belonging to East Asian haplogroup ***,this homoplasmic mtDNA variant was absent among 156 unrelated Chinese *** further understand the role of nuclear modified genes involved in the phenotypic manifestation of deafness-associated 12S rRNA A I555G mutation,we perform the PCR amplification of GJB2 gene and TRMU gene in the affected relatives of this ***,the absent of variants in GJB2 and TRMU indicated that GJB2 and TRMU may not be the modified factors of the phenotypic effects of the A1555G mutation in those *** these variants,the homoplasmic A14693G mutation in the trnaGlu is of special interest as it was implicated to be associated with various mitochondrial disorders,such as MELAS,hypertension,and may have a modified role in the phenotypic expression of LHON-associated ND1 G3460A mutation in Chinese *** mutation is located at the TΨC-loop,at conventional position of 54 of *** uridine at this position(U54),which is highly conserved from bacteria to human species,has been shown to be important for trna structure and *** alteration of structure of the trna by these mtDNA mutations may lead to a failure in trna metabolism,thereby causing impairment of mitochondrial ***,mitochondri

关键词： Hearing loss Mitochondrial DNA Mutation trna variant Aminoglycoside Penetrance

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