Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis
A survey of 186 soluble lymphocyte proteins for genetic polymorphism was carried out utilizing two-dimensional electrophoresis of /sup 14/C-labeled phytohemagglutinin (PHA)-stimulated human lymphocyte proteins. Nineteen of these proteins exhibited positional variation consistent with independent genetic polymorphism in a primary sample of 28 individuals. Each of these polymorphisms was characterized by quantitative gene-dosage dependence insofar as the heterozygous phenotype expressed approximately 50% of each allelic gene product as was seen in homozygotes. Patterns observed were also identical in monozygotic twins, replicate samples, and replicate gels. The three expected phenotypes (two homozygotes and a heterozygote) were observed in each of 10 of these polymorphisms while the remaining nine had one of the homozygous classes absent. The presence of the three phenotypes, the demonstration of gene-dosage dependence, and our own and previous pedigree analysis of certain of these polymorphisms supports the genetic basis of these variants. Based on this data, the frequency of polymorphic loci for man is: P . 19/186 . .102, and the average heterozygosity is .024. This estimate is approximately 1/3 to 1/2 the rate of polymorphism previously estimated for man in other studies using one-dimensional electrophoresis of isozyme loci. The newly described polymorphisms and others which should be detectable in larger protein surveys with two-dimensional electrophoresis hold promise as genetic markers of the human genome for use in gene mapping and pedigree analyses.
- Research Organization:
- Laboratory of Clinical Science, National Institute of Mental Health, Bethesda, MD
- OSTI ID:
- 5590124
- Journal Information:
- Am. J. Hum. Genet.; (United States), Vol. 35:5
- Country of Publication:
- United States
- Language:
- English
Similar Records
The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination
A model system for QTL analysis: Effects of alcohol dehydrogenase genotype on alcohol pharmacokinetics
Related Subjects
LYMPHOCYTES
LABELLING
PROTEINS
ELECTROPHORESIS
GENETIC VARIABILITY
PHENOTYPE
CARBON 14 COMPOUNDS
GENETICS
HYBRIDIZATION
MAN
TRACER TECHNIQUES
ANIMAL CELLS
ANIMALS
BIOLOGICAL MATERIALS
BIOLOGICAL VARIABILITY
BIOLOGY
BLOOD
BLOOD CELLS
BODY FLUIDS
CONNECTIVE TISSUE CELLS
ISOTOPE APPLICATIONS
LABELLED COMPOUNDS
LEUKOCYTES
MAMMALS
MATERIALS
ORGANIC COMPOUNDS
PRIMATES
SOMATIC CELLS
VERTEBRATES
550401* - Genetics- Tracer Techniques
550201 - Biochemistry- Tracer Techniques