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- W2364778944 abstract "Objectives To explore the etiology of Leigh syndrome for Chinese population, and to perform mutation analysis on pyruvate dehydrogenase E1 α-subunit (PDHA1) gene and mitochondrial DNA (mtDNA) . Methods One hundred fourty-five patients with Leigh syndrome from 28 provinces or cities from mainland China were studied from 1996 to 2006. PDHA1 gene was amplified with PCR technique and sequenced in 80 patients, after excluding the mutations on SURF1 gene and four point mutations (including T8993G, T8993C, A8344G and A3243G) on mtDNA. Nine point mu- tations (G13513A, A13084T, T10158C, C11777A, T10191C, T14487C, T12706C, 9537insC and T9176G) on mt- DNA were analyzed in 64 patients without T8993G, T8993C, A8344 G and A3243G mutations. Mutation analysis for SURF1 gene was done on 23 patients with A3243G mutation on mtDNA. Results C214T mutation on PDHA1 gene was detected in a boy. Nine point mutations on mitochondrial genome were negative in 64 patients. Six of the 23 patients with A3243G mutation on mtDNA were identified as having a heterogeneous G604C variation on SURF1 gene. Conclusions The complicated genetic defects of Leigh syndrome makes it hard to perform genetic studies. Therefore, it is essential to establish an enzyme assay for mitochondrial respiratory chain in order to minimize the screening scope and clarify the etiology of Leigh syndrome." @default.
- W2364778944 created "2016-06-24" @default.
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- W2364778944 date "2008-01-01" @default.
- W2364778944 modified "2023-09-25" @default.
- W2364778944 title "Mutation analysis on nuclear gene and mitochondrial gene for Chinese patients with Leigh syndrome" @default.
- W2364778944 hasPublicationYear "2008" @default.
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