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W2371171569 abstract "Objective: To identify whether mitochondrial DNA(MtDNA) is invoved in the mechanism of Rett syndrome(RS), we undertook a mutation analysis of MtDNA genome. Methods: MtDNA from three kinds of tissue (white blood cells, postmortem brain and muscle) of a child with RS and that from white blood cells of her mother were analysed by using Southern blot, polymerase chan reaction (PCR), single strand conformation polymorphism(SSCP) and DNA sequencing. Results: PCR-SSCP showed mutation in MtDNA in region 2 650 ~ 3 000 encoding 16S rRNA of MtDNA in the three kinds of tissue of the patient and the white blood cells of her mother. The same mutation was not found in 30 normal controls. DNA sequence analysis was done in the patient and showed the same point mutation(A→G) at the position 2 706 in the three kinds of tissue. Conlusion: These data indicate that MtDNA may play a role in Rett syndrome and further studies are needed." @default.
W2371171569 created "2016-06-24" @default.
W2371171569 creator A5026702959 @default.
W2371171569 date "1997-01-01" @default.
W2371171569 modified "2023-09-25" @default.
W2371171569 title "MUTATIONAL ANALYSIS OF MITOCHONDRIAL DNA FROM THREE KINDS OF TISSUES OF A CHILD WITH RETT SYNDROME" @default.
W2371171569 hasPublicationYear "1997" @default.
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