title: Analysis of Batten disease candidate genes STP and STM.
abstract: We have sequenced a large proportion of the open reading frames (ORFs) of two phenol sulphotransferase gene transcripts (STP and STM) from three patients with Batten disease. This was done using reverse transcription and PCR amplification of total RNA followed by direct sequencing of the PCR products. No mutations or changes have been observed in either gene after sequencing 93% of the STP ORF and 72% of the STM ORF. Work is in progress to finish sequencing both genes which will allow the confirmation or exclusion of these phenol sulphotransferases having a role in the development of Batten disease.
authors.affiliation: Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: T P
authors.initials: TP
authors.lastname: Dooley
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D015239:Arylsulfotransferase / Q000096:biosynthesis / Q000235:genetics*; D001483:Base Sequence; D002885:Chromosomes, Human, Pair 16; D005091:Exons; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000235:genetics*; D016366:Open Reading Frames; D016133:Polymerase Chain Reaction; D012045:Regulatory Sequences, Nucleic Acid; D014158:Transcription, Genetic
chemical_list: D015239:Arylsulfotransferase