Failure to demonstrate mutations affecting protein structure or function in children with congenital defects or born prematurely

Proc Natl Acad Sci U S A. 1984 Sep;81(17):5499-503. doi: 10.1073/pnas.81.17.5499.

Abstract

An effort has been made to confirm the report [Dubinin, N. P. & Altukhov, Y. P. (1979) Proc. Natl. Acad. Sci. USA 76, 5226-5229] that children born prematurely or exhibiting congenital defects can be shown to exhibit relatively high frequencies of rare (nonpolymorphic) electrophoretic variants of proteins and that a large proportion of these variants are due to mutation in either the father or the mother. In a series of 178 children who were comparable with those described in the earlier report, we failed to encounter a high frequency of these variants in some 5341 determinations involving 45 proteins, nor were any mutations observed. Data from 1583 determinations of enzyme activity on a subset of the panel of proteins were also unremarkable. We are thus unable to confirm the earlier report.

Publication types

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

MeSH terms

  • Blood Proteins / genetics*
  • Chromosome Aberrations
  • Chromosome Disorders
  • Congenital Abnormalities / genetics*
  • Electrophoresis, Polyacrylamide Gel / methods
  • Genetic Variation
  • Humans
  • Infant, Newborn
  • Infant, Premature*
  • Isoenzymes / genetics*
  • Karyotyping
  • Mutation*

Substances

  • Blood Proteins
  • Isoenzymes