Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy

Comput Methods Biomech Biomed Engin. 2010 Jun;13(3):403-11. doi: 10.1080/10255840903279974.

Abstract

The phenotype expression in X-linked adrenoleukodystrophy is one of the most intriguing issues of the disease, because there is no general correlation between the type of ABCD1 gene mutation and the clinical phenotype. In this study, we use the cross-impact analysis to build a descriptively quantitative relationship between mutant adrenoleukodystrophy protein and classification of adrenoleukodystrophy with the amino-acid distribution probability, which is a quantitative measure sensitive to mutation. Then we determine the probability that the adrenoleukodystrophy can be classified under mutations with the help of a Bayesian equation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / chemistry
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Amino Acids / chemistry
  • Genetic Linkage*
  • Humans
  • Mutation*
  • Probability

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Amino Acids