[Mutation analysis of mitochondrial DNA of children with Rett syndrome].
OBJECTIVE
To identify whether mitochondrial DNA (mtDNA) mutation is involved in the pathogenesis of Rett syndrome (RS), we undertook a mutation analysis of the mtDNA genome.


METHODS
mtDNA from 15 children with RS and 14 their mothers were analysed by using Southern hybridization, polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and DNA direct sequencing. Total DNA was isolated from white blood cells.


RESULTS
Southern hybridization with whole mtDNA probe revealed no large deletions in mtDNA. PCR amplification and SSCP analysis showed mutation(s) in the region 2650-3000 encoding 16SrRNA of mtDNA in 13 RS patients and 11 their mothers. DNA sequence analysis and mismatch PCR showed a point mutation (C-->T) at the position 2835 in 7 RS patients and 6 their mothers. The same mutation was not found in 30 normal controls.


CONCLUSIONS
These data indicate that mtDNA may play a role in Rett syndrome.
Tang
J
J
Department of Pediatrics, First Teaching Hospital, Beijing Medical University.
Qi
Y
Y
Bao
X
X
D000328:Adult; D015139:Blotting, Southern; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015518:Rett Syndrome / Q000235:genetics*; D017422:Sequence Analysis, DNA
D004272:DNA, Mitochondrial