title: Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR.
abstract: The L-cone/M-cone visual pigment gene arrays were analyzed in a group of 63 Japanese females consisting of 7 applicants for examination of their carrier status, 14 color-deficient females, 6 obligate carriers with no genotypic data available for affected father or sons, and 36 color-normals. The first and the downstream genes, the entire region from the promoter to exon 6, were each amplified very efficiently by the long-range PCR to give products of 15.8 and 14.4 kb, respectively. The products were gel-purified and used as the template in the second PCR for exon 5. The region from intron 4 of the last genes, to the nearest neighbor gene, TEX28, was also efficiently amplified by the long-range PCR and the gel-purified products (27.5 kb) were used as the template in the second PCR for exon 5. The status of the 7 applicants was thought to be 3 non-carriers, 2 protan carriers and 2 deutan carriers. All of the 14 color-deficient females had unusual arrays in which an M gene was present as the first gene, an L gene(s) was present downstream, or a single L gene constituted both of the two arrays. One protanopic subject, A348, had an L gene as one of the first genes. The 6 obligate carriers also had unusual arrays with the exception of the mother of the A187, a male subject with pigment color defect. In the 36 color-normal individuals, 4 had downstream L genes. The long-range PCR method is useful for analysis of the L/M visual pigment genes.
authors.affiliation: Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu 520-2192, Japan.
authors.forename: Sanae
authors.initials: S
authors.lastname: Oda
authors.forename: Hisao
authors.initials: H
authors.lastname: Ueyama
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Nishida
authors.forename: Shoko
authors.initials: S
authors.lastname: Tanabe
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yamade
mesh_terms: D003117:Color Vision Defects / Q000151:congenital / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006579:Heterozygote; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D017949:Retinal Cone Photoreceptor Cells / Q000737:chemistry*; D012168:Retinal Pigments / Q000235:genetics*
chemical_list: D012168:Retinal Pigments