Biochemistry and molecular biology international, 1998-07, Vol.45 (4), p.643-650
1998
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Details
- Autor(en) / Beteiligte
- Titel
- Amplification of phenylalanine hydroxylase and cystathionine β‐synthase transcripts in human peripheral lymphocytes by RT‐PCR
- Ist Teil von
- Biochemistry and molecular biology international, 1998-07, Vol.45 (4), p.643-650
- Ort / Verlag
- UK: Informa Healthcare
- Erscheinungsjahr
- 1998
- Quelle
- Wiley Online Library - AutoHoldings Journals
- Beschreibungen/Notizen
- A simple, rapid, reliable and convenient method was developed to analyze the gene defects in Phenylketonuria (PKU) and Homocystinuria (HCU). In this method, illegitimately transcribed phenylalanine hydroxylase (PAH) and cystathionine β‐synthase (CBS) mRNAs in peripheral lymphocytes were used as templates for amplification by RT‐PCR. The amplified products were confirmed by restriction enzyme digestions, southern blot hybridizations and sequencing. Point mutations in the protein coding region and splice junction mutations of PAH and CBS can be analyzed by this method.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1521-6543, 1039-9712eISSN: 1521-6551DOI: 10.1080/15216549800203042Titel-ID: cdi_proquest_miscellaneous_73848214
- Format
- –
- Schlagworte
- Blotting, Southern, Cystathionine beta-Synthase - genetics, Cystathionine β‐synthase, DNA Mutational Analysis, DNA Primers, DNA, Complementary, Homocystinuria, Homocystinuria - genetics, Humans, Illegitimate transcription, Lymphocytes, Mental retardation, Phenylalanine hydroxylase, Phenylalanine Hydroxylase - genetics, Phenylketonuria, Phenylketonurias - genetics, Polymerase Chain Reaction, Reverse Transcription, RNA, Messenger - genetics, Tumor Cells, Cultured