Article
Analysis of Batten disease candidate genes STP and STM.
American journal of medical genetics - 5 Jun 1995
Munroe P B, Mitchison H M, Dooley T P, Gardiner R M, Mole S E
Abstract excerpt
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...
Topics
- Arylsulfotransferase
- Base Sequence
- Chromosomes, Human, Pair 16
- Exons
- Humans
- Lymphocytes
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Open Reading Frames
- Polymerase Chain Reaction
- Regulatory Sequences, Nucleic Acid