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Amplification of phenylalanine hydroxylase and cystathionine beta-synthase transcripts in human peripheral lymphocytes by RT-PCR

Devi, KS and Devi, AR and Kondaiah, P (1998) Amplification of phenylalanine hydroxylase and cystathionine beta-synthase transcripts in human peripheral lymphocytes by RT-PCR. In: Biochemistry and Molecular Biology International, 45 (4). pp. 643-650.

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Abstract

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 beta-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.

Item Type: Journal Article
Additional Information: Copyright of this article belongs to Taylor & Francis.
Keywords: illegitimate transcription; phenylalanine hydroxylase; phenylketonuria;cystathionine beta-synthase; homocystinuria;reverse transcription;polymerase chain reaction; mental retardation.
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics (formed by the merger of DBGL and CRBME)
Date Deposited: 22 Apr 2009 04:33
Last Modified: 22 Apr 2009 04:33
URI: http://eprints.iisc.ernet.in/id/eprint/17950

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