[A comparative study of the detection of abnormal visual pigment genes by PCR and hybridization]

Since color vision abnormalities always involved the exon 5 of visual pigment genes, 2 oligonucleotide primers were designed to amplify the exon 5 of the red and green pigment genes. After electrophoresis of PCR products digested with RsaI or Sau 3A, the DNA fragments from the exon 5 of the red and green pigment genes were separated by virtue of their different restriction endonuclease sites. In the meantime, we analyzed the exon 5 related fragments by Southern blot hybridization with probe from the 3' end of the fourth intron of the visual pigment genes, yielding consistent results. The PCR technique may be of value in prenatal evaluation and genetic counseling.