Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group

Cell Biochemistry and Biophysics
B C Paton, A N Pollard

Abstract

The cDNA sequence for the human D-bifunctional protein (D-BP: 17 beta-hydroxysteroid dehydrogenase IV) was investigated in patients with peroxisomal disorders belonging to the BP complementation group (CG). In three cases, analysis of polymerase chain reaction products generated from the patients' cDNA indicated the presence of a deletion within the region corresponding to nucleotides 209-537 of the normal cDNA sequence. Subsequent sequencing revealed that, in two of the patients, 47 base pairs were missing, with the deletion corresponding to nucleotides 302/3-349/50 of the normal sequence. In the third patient, a smaller deletion of 22 bp (nucleotides 280/1-302/3) was characterized. Only the mutant sequence was detected in each of these cases, consistent with parental consanguinity. Both deletions cause a frameshift, and would lead to premature termination of the BP. Available family members were also investigated, and the findings conformed with expectations for an autosomal recessive disorder. In addition to the deletions, a number of other base changes have been identified in this series of patients. In particular, one patient, whose parents were also consanguineous, was homozygous for a base change, which results in a nonc...Continue Reading

Citations

Feb 13, 2001·Molecular and Cellular Endocrinology·G MöllerJ Adamski
Jan 22, 2013·Journal of Pediatric and Adolescent Gynecology·Min Jeong KimYonggoo Kim
Nov 26, 2008·Molecular and Cellular Endocrinology·Gabriele Moeller, Jerzy Adamski
Dec 31, 2005·American Journal of Human Genetics·Sacha FerdinandusseTuomo Glumoff
Jan 13, 2005·Journal of Molecular Biology·Kristian M KoskiTuomo Glumoff
Aug 22, 2006·Brain & Development·Sabrina BuoniAlberto Fois
Feb 4, 2003·Journal of Lipid Research·Jolein GloerichSacha Ferdinandusse

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