Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
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.
Yan
Shaomin
S
National Engineering Research Center for Non-Food Biorefinery, Guangxi Academy of Sciences, 98 Daling Road, Nanning, Guangxi Province 530007, P.R. China.
Wu
Guang
G
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000596:Amino Acids / Q000737:chemistry; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D011336:Probability
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D000596:Amino Acids