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5. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees

Author

Chen, Bobei, primary, Sun, Dongmei, additional, Yang, Li, additional, Zhang, Chuqin, additional, Yang, Aifen, additional, Zhu, Yi, additional, Zhao, Jianyue, additional, Chen, Yingying, additional, Guan, Minqiang, additional, Wang, Xinjian, additional, Li, Ronghua, additional, Tang, Xiaowen, additional, Wang, Jindan, additional, Tao, Zhihua, additional, Lu, Jianxin, additional, and Guan, Min-Xin, additional

Published
2008
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6. The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family

Author

Liao, Zhisu, primary, Zhao, Jianyue, additional, Zhu, Yi, additional, Yang, Li, additional, Yang, Aifen, additional, Sun, Dongmei, additional, Zhao, Zhongnong, additional, Wang, Xinjian, additional, Tao, Zhihua, additional, Tang, Xiaowen, additional, Wang, Jindan, additional, Guan, Minqiang, additional, Chen, Jiafu, additional, Li, Zhiyuan, additional, Lu, Jianxin, additional, and Guan, Min-Xin, additional

Published
2007
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7. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees

Author

Chen, Bobei, Sun, Dongmei, Yang, Li, Zhang, Chuqin, Yang, Aifen, Zhu, Yi, Zhao, Jianyue, Chen, Yingying, Guan, Minqiang, Wang, Xinjian, Li, Ronghua, Tang, Xiaowen, Wang, Jindan, Tao, Zhihua, Lu, Jianxin, and Guan, MinXin

Abstract

We report here on the clinical, genetic, and molecular characterization of three Han Chinese pedigrees with aminoglycosideinduced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing impairment including severity, ageatonset, audiometric configuration in these subjects. The penetrance of hearing loss in WZD8, WZD9, and WZD10 pedigrees were 46, 46, and 50, respectively, when aminoglycosideinduced deafness was included. When the effect of aminoglycosides was excluded, the penetrance of hearing loss in these pedigrees were 23, 31, and 37.5, respectively. Mutational analysis of the complete mitochondrial genomes showed the homoplasmic A1555G mutation and distinct sets of mitochondrial DNA variants belonging to haplogroups D4b2b, B5b1, and F2, respectively. Of these, the tRNACysT5802C, tRNAThrA15924C, and ND5 T12338C variants are of special interest as these variants occur at positions which are highly evolutionarily conserved nucleotides of tRNAs or amino acid of polypeptide. These homoplasmic mtDNA variants were absent among 156 unrelated Chinese controls. The T5802C and G15927A variants disrupted a highly conserved AU or CG basepairing at the anticodonstem of tRNACysor tRNAThr, while the ND5 T12338C mutation resulted in the replacement of the translationinitiating methionine with a threonine, and also located in two nucleotides adjacent to the 3′ end of the tRNALeuCUN. Thus, mitochondrial dysfunctions, caused by the A1555G mutation, would be worsened by these mtDNA variants. Therefore, these mtDNA mutations may have a potential modifier role in increasing the penetrance and expressivity of the deafnessassociated 12S rRNA A1555G mutation in those Chinese pedigrees. © 2008 WileyLiss, Inc.

Published
2008
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