Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome.
OBJECTIVE
Mitochondrial DNA (mtDNA) mutations have been proposed as a genetic risk factor for sudden infant death syndrome (SIDS). The aim of this study was to further investigate this issue, by sequencing the mitochondrial tRNA genes with flanking regions in SIDS cases and controls.


METHODS
The selected genes were investigated in 24 cases of SIDS and 10 controls, the method used were direct sequencing. In addition, the A10398G mutation in the ND3 gene was investigated in 220 SIDS cases, 26 cases of infectious death and 93 controls, using allele-specific PCR.


RESULTS
Mutations, recorded as differences from the revised Cambridge sequence, were found in 32 different sites in the coding regions investigated. There was no difference in mutation frequency between SIDS cases and controls, and no single mutation was found associated with SIDS.


CONCLUSIONS
The present study does not indicate an association between a specific mitochondrial tRNA gene mutation and SIDS, nor a higher mtDNA tRNA mutation frequency in SIDS cases than in controls.
Opdal
Siri Hauge
SH
Institute of Forensic Medicine, University of Oslo, Oslo, Norway. s.h.opdal@medisin.uio.no
Vege
Ashild
A
Arnestad
Marianne
M
Musse
Musse Ahmed
MA
Rognum
Torleiv Ole
TO
D024509:3' Flanking Region / Q000235:genetics; D024506:5' Flanking Region / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*
D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer