PMID- 15115244
OWN - NLM
STAT- MEDLINE
DCOM- 20041029
LR  - 20190823
IS  - 0036-5513 (Print)
IS  - 0036-5513 (Linking)
VI  - 64
IP  - 2
DP  - 2004 Apr
TI  - A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 
      tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing 
      loss.
PG  - 86-92
AB  - Blood cells of selected patients from a large Norwegian family with maternally 
      transmitted diabetes mellitus, hearing loss and muscular dysfunction were 
      screened for possible A3243G mutation tRNA(Leu (UUR)) in mitochondrial DNA. We 
      selected 7 patients from 3 of the 4 generations of the family and 10 unrelated 
      healthy control subjects for mutation analysis using denaturing gradient gel 
      electrophoresis (DGGE) and both manual and automated DNA sequencing. The A3243G 
      mutation was found in peripheral blood cells of all 7 patients, but in none of 
      the controls. The mutation was in the form of heteroplasmy and the amount of 
      mutant DNA was found to be between 10% and 35% of total mtDNA in individual 
      patients. This is the first report of a Norwegian family with maternally 
      inherited diabetes and hearing loss carrying the A3243G mutation in mitochondrial 
      DNA.
FAU - Akbari, M
AU  - Akbari M
AD  - Institute of Cancer Research and Molecular Biology, Regional Hospital Trondheim, 
      Norwegian University of Science and Technology, Trondheim, Norway. 
      Mansour.akbari@medisin.ntnu.no
FAU - Skjelbred, C
AU  - Skjelbred C
FAU - Folling, I
AU  - Folling I
FAU - Sagen, J
AU  - Sagen J
FAU - Krokan, H E
AU  - Krokan HE
LA  - eng
PT  - Journal Article
PL  - England
TA  - Scand J Clin Lab Invest
JT  - Scandinavian journal of clinical and laboratory investigation
JID - 0404375
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (RNA, Transfer, Leu)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Alanine/genetics
MH  - DNA Mutational Analysis/*methods
MH  - DNA, Mitochondrial/*genetics
MH  - Diabetes Complications
MH  - Diabetes Mellitus/*genetics
MH  - *Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - Genetic Testing/methods
MH  - Hearing Loss/complications/*genetics
MH  - Humans
MH  - Male
MH  - Muscular Diseases/complications/genetics
MH  - Norway
MH  - Nucleic Acid Denaturation
MH  - Pedigree
MH  - Point Mutation/*genetics
MH  - RNA, Transfer, Leu/*genetics
EDAT- 2004/04/30 05:00
MHDA- 2004/10/30 09:00
CRDT- 2004/04/30 05:00
PHST- 2004/04/30 05:00 [pubmed]
PHST- 2004/10/30 09:00 [medline]
PHST- 2004/04/30 05:00 [entrez]
AID - 10.1080/00365510410004209 [doi]
PST - ppublish
SO  - Scand J Clin Lab Invest. 2004 Apr;64(2):86-92. doi: 10.1080/00365510410004209.