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Amplification of phenylalanine hydroxylase and cystathionine β‐synthase transcripts in human peripheral lymphocytes by RT‐PCR
Author(s) -
Devi K. Santhi,
Devi A. Radha Rama,
Kondaiah Paturu
Publication year - 1998
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1080/15216549800203042
Subject(s) - phenylalanine hydroxylase , cystathionine beta synthase , microbiology and biotechnology , homocystinuria , restriction enzyme , gene , coding region , biology , point mutation , enzyme , phenylalanine , chemistry , biochemistry , mutation , amino acid , cysteine , methionine
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.