PMID- 3364986
OWN - NLM
STAT- MEDLINE
DCOM- 19880602
LR  - 20190628
IS  - 0003-9861 (Print)
IS  - 0003-9861 (Linking)
VI  - 262
IP  - 2
DP  - 1988 May 1
TI  - A rare genetically determined electrophoretic variant of human leucocyte type III 
      hexokinase.
PG  - 626-35
AB  - Various lines of evidence from starch gel electrophoretic experiments demonstrate 
      the existence of a genetically determined rare variant form of the type III 
      isozyme of hexokinase (HK) in the leucocytes of a small percentage of the general 
      human population. This enzymatically active variant (designated IIIS) migrates 
      slightly, but significantly, slower than the common form (designated IIIF). In 
      addition to finding various individuals with a two-banded pattern (heterozygotes 
      containing both IIIS and IIIF), a finding reported previously by S. Povey, G. 
      Corney, and H. Harris ((1975) Ann. Hum. Genet. 38, 407-415), we discovered one 
      person homozygous for the variant phenotype. In close agreement with Povey et 
      al., screening of 59 individuals at random indicated a gene frequency of about 
      0.017 for the IIIS allele, corresponding to a homozygous genotype for this allele 
      that would be expected in about one of every 3500 individuals. Experiments 
      involving the mixing of blood samples from the individual homozygous for IIIS 
      with those homozygous for IIIF indicate that secondary in vitro changes, a 
      possibility suggested by Povey et al., are not responsible for the appearance of 
      the variant. This conclusion was supported by a demonstration of the specificity 
      of the alteration in type III's mobility in comparison with the lack of 
      alterations in any of the LDH isozymes, glucose-6-phosphate dehydrogenase, and 
      various amido black-stainable proteins. These studies confirm the proposal for a 
      genetically determined polymorphism of type III HK. No differences could be found 
      between the total HK activity (according to spectrophotometric assays) of 
      extracts from the subject homozygous for the variant and the activity from the 
      homozygote for the common form, in terms of either their Km values for glucose or 
      their heat stability properties. The similarity of Km values was supported by 
      kinetic assays performed during staining of the individual forms on 
      electrophoretic gels. Previous findings, reported elsewhere, of type III HK in 
      RBC extracts were shown here to be attributable to contamination, by leucocytes, 
      of the extracts. As a consequence of these studies, slight, but significant, 
      amounts of type II-like HK were also discovered in leucocytes. Because our 
      studies described above were completed in 1969, advantage was taken of the 
      opportunity to test the HK pattern 17 years later from some of the same subjects. 
      The patterns of the homozygotes for IIIS and for IIIF and the heterozygotes were 
      found to be identical to the original ones, indicating no age-, environmental-, 
      or other time-related changes that could explain the variation in type III HK.
FAU - Katzen, H M
AU  - Katzen HM
AD  - Merck Institute for Therapeutic Research, Rahway, New Jersey 07065.
FAU - Soderman, D D
AU  - Soderman DD
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Arch Biochem Biophys
JT  - Archives of biochemistry and biophysics
JID - 0372430
RN  - 0 (Isoenzymes)
RN  - EC 2.7.1.1 (Hexokinase)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Blood Protein Electrophoresis
MH  - Female
MH  - Gene Frequency
MH  - Genetic Variation
MH  - Hexokinase/*genetics/metabolism
MH  - Hot Temperature
MH  - Humans
MH  - Isoenzymes/*genetics/metabolism
MH  - Kinetics
MH  - Leukocytes/*enzymology
MH  - Male
MH  - Middle Aged
EDAT- 1988/05/01 00:00
MHDA- 1988/05/01 00:01
CRDT- 1988/05/01 00:00
PHST- 1988/05/01 00:00 [pubmed]
PHST- 1988/05/01 00:01 [medline]
PHST- 1988/05/01 00:00 [entrez]
AID - 0003-9861(88)90415-8 [pii]
AID - 10.1016/0003-9861(88)90415-8 [doi]
PST - ppublish
SO  - Arch Biochem Biophys. 1988 May 1;262(2):626-35. doi: 
      10.1016/0003-9861(88)90415-8.