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Title: Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis

Abstract

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 detectablemore » 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.« less

Authors:
;
Publication Date:
Research Org.:
Laboratory of Clinical Science, National Institute of Mental Health, Bethesda, MD
OSTI Identifier:
5590124
Resource Type:
Journal Article
Journal Name:
Am. J. Hum. Genet.; (United States)
Additional Journal Information:
Journal Volume: 35:5
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; 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

Citation Formats

Goldman, D, and Merril, C R. Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis. United States: N. p., 1983. Web.
Goldman, D, & Merril, C R. Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis. United States.
Goldman, D, and Merril, C R. 1983. "Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis". United States.
@article{osti_5590124,
title = {Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis},
author = {Goldman, D and Merril, C R},
abstractNote = {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.},
doi = {},
url = {https://www.osti.gov/biblio/5590124}, journal = {Am. J. Hum. Genet.; (United States)},
number = ,
volume = 35:5,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1983},
month = {Thu Sep 01 00:00:00 EDT 1983}
}