Identification of Genetic Variants in Erythrocyte Lysate by Two-dimensional Gel Electrophoresis

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1984 May 1

PMID 6203403

Citations 13

Authors

B B Rosenblum

J V Neel

S M Hanash

J L Joseph

N Yew

Affiliations

Soon will be listed here.

Abstract

Two-dimensional gel electrophoresis followed by silver-staining has been employed to study 27 red cell lysates for genetic variation. Forty-six polypeptides selected without respect to variability were considered suitable for scoring. Only 23 of the total of 1,242 polypeptides could not be scored unambiguously. Of the remaining 1,219 polypeptides, 38 exhibited the combination of a normal and a variant polypeptide. All variants were present in either the father or the mother of the subjects. The observed index of heterozygosity was 3.1% +/- 0.5%.

Citing Articles

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A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.

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Two-dimensional gel studies of genetic variation in the plasma proteins of Amerindians and Japanese.

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Genetic analysis of thirty-three platelet polypeptides detected in two-dimensional polyacrylamide gels.

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References

Ofarrell P . High resolution two-dimensional electrophoresis of proteins. J Biol Chem. 1975; 250(10):4007-21. PMC: 2874754. View

Fisher R, Putt W, Harris H . The distribution of isoelectric points of human soluble proteins and in particular of the enzyme products of 88 human gene loci. Ann Hum Genet. 1977; 40(4):371-84. DOI: 10.1111/j.1469-1809.1977.tb02025.x. View

Edwards J, Anderson N, Nance S, Anderson N . Red cell proteins. I. Two-dimensional mapping of human erythrocyte lysate proteins. Blood. 1979; 53(6):1121-32. View

Anderson N, Anderson N . Microheterogeneity of serum transferrin, haptoglobin and alpha 2 HS glycoprotein examined by high resolution two-dimensional electrophoresis. Biochem Biophys Res Commun. 1979; 88(1):258-65. DOI: 10.1016/0006-291x(79)91724-8. View

Walton K, Styer D, Gruenstein E . Genetic polymorphism in normal human fibroblasts as analyzed by two-dimensional polyacrylamide gel electrophoresis. J Biol Chem. 1979; 254(16):7951-60. View

McConkey E, Taylor B, Phan D . Human heterozygosity: a new estimate. Proc Natl Acad Sci U S A. 1979; 76(12):6500-4. PMC: 411893. DOI: 10.1073/pnas.76.12.6500. View

Smith S, Racine R, Langley C . Lack of genic variation in the abundant proteins of human kidney. Genetics. 1980; 96(4):967-74. PMC: 1219311. DOI: 10.1093/genetics/96.4.967. View

Wilson J, Baugher B, Landa L, Kelley W . Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme. J Biol Chem. 1981; 256(20):10306-12. View

Hamaguchi H, Ohta A, Mukai R, Yabe T, Yamada M . Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 1. Detection of genetic variant polypeptides in PHA-stimulated peripheral blood lymphocytes. Hum Genet. 1981; 59(3):215-20. DOI: 10.1007/BF00283667. View

10.

Wanner L, Neel J, Meisler M . Separation of allelic variants by two-dimensional electrophoresis. Am J Hum Genet. 1982; 34(2):209-15. PMC: 1685297. View

11.

Comings D . Two-dimensional gel electrophoresis of human brain proteins. III. Genetic and non-genetic variations in 145 brains. Clin Chem. 1982; 28(4 Pt 2):798-804. View

12.

Leavitt J, Goldman D, Merril C, KAKUNAGA T . Actin mutations in a human fibroblast model for carcinogenesis. Clin Chem. 1982; 28(4 Pt 2):850-60. View

13.

Rosenblum B, Hanash S, Yew N, Neel J . Two-dimensional electrophoretic analysis of erythrocyte membranes. Clin Chem. 1982; 28(4 Pt 2):925-31. View

14.

Hamaguchi H, Yamada M, Noguchi A, Fujii K, Shibasaki M, Mukai R . Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide. Hum Genet. 1982; 60(2):176-80. DOI: 10.1007/BF00569708. View

15.

Hamaguchi H, Yamada M, Shibasaki M, Mukai R, Yabe T, Kondo I . Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes. Hum Genet. 1982; 62(2):142-7. DOI: 10.1007/BF00282303. View

16.

Hamaguchi H, Yamada M, Shibasaki M, Kondo I . Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide. Hum Genet. 1982; 62(2):148-51. DOI: 10.1007/BF00282304. View

17.

Wilson J, Tarr G, Kelley W . Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci U S A. 1983; 80(3):870-3. PMC: 393482. DOI: 10.1073/pnas.80.3.870. View

18.

Naz R, Saxe J, MENGE A . Inhibition of fertility in rabbits by monoclonal antibodies against sperm. Biol Reprod. 1983; 28(1):249-54. DOI: 10.1095/biolreprod28.1.249. View

19.

McLellan T, AMES G, NIKAIDO K . Genetic variation in proteins: comparison of one-dimensional and two-dimensional gel electrophoresis. Genetics. 1983; 104(2):381-90. PMC: 1202083. DOI: 10.1093/genetics/104.2.381. View

20.

Rosenblum B, Neel J, Hanash S . Two-dimensional electrophoresis of plasma polypeptides reveals "high" heterozygosity indices. Proc Natl Acad Sci U S A. 1983; 80(16):5002-6. PMC: 384176. DOI: 10.1073/pnas.80.16.5002. View