PMID- 1052766
OWN - NLM
STAT- MEDLINE
DCOM- 19781118
LR  - 20041117
IS  - 0003-4800 (Print)
IS  - 0003-4800 (Linking)
VI  - 39
IP  - 2
DP  - 1975 Oct
TI  - Aconitase polymorphism in man.
PG  - 193-202
AB  - 1. An electrophoretic method is described which resolves two groups of aconitase 
      isozymes in human tissues, one group corresponding to the mitochondrial and the
      other to the soluble enzyme. This method has been used to screen human
      populations for electrophoretic variation. 2. Variant phenotypes of both the
      mitochondrial and the soluble aconitase are described, and family studies and
      sib-pair data demonstrate that the variation is genetically determined. 3. The
      variant isozyme patterns are accounted for in terms of allelic variation at two
      independent gene loci, ACONM and ACONS, which encode the mitochondrial and the
      soluble aconitase respectively. The electrophoretic survey has so far revealed
      two alleles at ACONM and seven alleles at ACONS. 4. The electrophoretic patterns 
      shown by heterozygous individuals indicate that both soluble and mitochondrial
      aconitase are monomeric. The variant patterns also indicate that certain minor
      aconitase components resolved under the electrophoretic conditions employed
      represent 'secondary' isozymes of the primary translation products. 5. Population
      data on Europenas and Nigerians are presented and it is shown that both rare and 
      common electrophoretic variants are segregating in the human species. The
      variation due to the three most common ACONS alleles in the Nigerians constitues 
      a polymorphism.
FAU - Slaughter, C A
AU  - Slaughter CA
FAU - Hopkinson, D A
AU  - Hopkinson DA
FAU - Harris, H
AU  - Harris H
LA  - eng
PT  - Journal Article
PL  - England
TA  - Ann Hum Genet
JT  - Annals of human genetics
JID - 0416661
RN  - EC 4.2.1.3 (Aconitate Hydratase)
SB  - IM
MH  - Aconitate Hydratase/*genetics
MH  - Electrophoresis, Starch Gel
MH  - England
MH  - Female
MH  - Humans
MH  - Leukocytes/enzymology
MH  - Male
MH  - Nigeria
MH  - Pedigree
MH  - Placenta/enzymology
MH  - *Polymorphism, Genetic
EDAT- 1975/10/01 00:00
MHDA- 1975/10/01 00:01
CRDT- 1975/10/01 00:00
PHST- 1975/10/01 00:00 [pubmed]
PHST- 1975/10/01 00:01 [medline]
PHST- 1975/10/01 00:00 [entrez]
PST - ppublish
SO  - Ann Hum Genet. 1975 Oct;39(2):193-202.