Munroe P B, Mitchison H M, Dooley T P, Gardiner R M, Mole S E
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
Am J Med Genet. 1995 Jun 5;57(2):324-6. doi: 10.1002/ajmg.1320570244.
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.
我们对三名巴顿病患者的两种酚磺基转移酶基因转录本（STP和STM）的大部分开放阅读框（ORF）进行了测序。这是通过对总RNA进行逆转录和PCR扩增，然后对PCR产物进行直接测序来完成的。在对93%的STP ORF和72%的STM ORF进行测序后，未在任一基因中观察到突变或变化。目前正在进行工作以完成对这两个基因的测序，这将有助于确认或排除这些酚磺基转移酶在巴顿病发展中所起的作用。
