title: Detection of gene alteration for color vision defects by polymerase chain reaction.
abstract: According to the fact that the abnormalities of visual pigment genes were always involved in the changing of the exon 5, two oligonucleotide primers were designed to amplify the exon 5 of red pigment gene and green pigment gene. After electrophoresis of the PCR products digested with Rsal or Sau3A, the DNA fragments from the exon 5 of red pigment gene (RPG) and green pigment gene (GPG) were separated since there are different restriction endonuclease sites. On the other hand, we analyzed the exon 5 related fragment by Southern blot hybridization with probe out of the 3' end of the fourth intron of green pigment gene. The results of PCR are consistent with nucleic acid hybridization. PCR technique will be of value in prenatal evaluation and genetic counselling.
authors.affiliation: Eye Research Institute, Sun Yat-sen University of Medical Sciences Guangzhou, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Mao
authors.forename: Q
authors.initials: Q
authors.lastname: Ma
authors.forename: R
authors.initials: R
authors.lastname: Zeng
authors.forename: L
authors.initials: L
authors.lastname: Wu
authors.forename: D Z
authors.initials: DZ
authors.lastname: Wu
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D003118:Color Perception / Q000235:genetics; D003117:Color Vision Defects / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA