Polymorphisms of mitochondrially encoded proteins

Am J Hum Genet. 1986 Feb;38(2):159-69.

Abstract

Polymorphisms of mitochondrially encoded proteins can be detected in human lymphocytes by sodium dodecyl-sulfate polyacrylamide gel electrophoresis (SDS-PAGE). Using an SDS-polyacrylamide 8 M urea system, 17 mitochondrially encoded proteins are distinguishable. Three of these (ME-6, ME-8, and ME-17) were polymorphic among 92 individuals screened, and these polymorphisms are reported here for the first time. With SDS-polyacrylamide electrophoresis without urea, 18 mitochondrial proteins are detectable. One of these (MV-1) varied in two of 31 individuals tested. This polymorphism has been identified previously in HeLa cells. Maternal inheritance of the ME-8 polymorphism was demonstrated by three informative families.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Electrophoresis, Polyacrylamide Gel
  • HeLa Cells
  • Humans
  • Lymphocytes / metabolism
  • Membrane Proteins / analysis
  • Membrane Proteins / genetics*
  • Mitochondria / analysis*
  • Polymorphism, Genetic*

Substances

  • DNA, Mitochondrial
  • Membrane Proteins