title: Molecular genetic detection of female carriers of protan defects.
abstract: Females heterozygous for congenital colour vision defects are of interest because they are believed to have cone photoreceptor ratios and cone photopigments that differ from normal. We describe a molecular genetic method to identify protan carriers that involves characterizing the genes that occur in the most upstream position in each of the X-chromosome photopigment gene arrays.
authors.affiliation: Department of Cellular Biology and Anatomy, Medical College of Wisconsin, Milwaukee 53226, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Kainz
authors.forename: M
authors.initials: M
authors.lastname: Neitz
authors.forename: J
authors.initials: J
authors.lastname: Neitz
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008967:Molecular Biology; D014960:X Chromosome
chemical_list: D004247:DNA