Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR

Vision Research

Volumn 43, Issue 5, 2003, Pages 489-495

  Oda, Sanae ^a   Ueyama, Hisao ^a   Nishida, Yasuhiro ^a   Tanabe, Shoko ^b   Yamade, Shinichi ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

Author keywords

Carrier; Cone; Congenital color vision deficiency; Female; Long range PCR; Visual pigment gene

Indexed keywords

VISUAL PIGMENT;

ACCURACY; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; COLOR VISION DEFECT; CONTROLLED STUDY; EXON; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; INTRON; JAPAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RETINA CONE;

EID: 12244286334     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0042-6989(02)00679-X     Document Type: Article

References (14)

1. Deeb S.S., Hayashi T., Winderickx J., Yamaguchi T. Molecular analysis of human red/green visual pigment gene locus: relationship to color vision. Palczewski K. Methods in enzymology, vol. 316, Vertebrate phototransduction and the visual cycle Part B. 2000;651-670 New York, Academic Press.
2. Deeb S.S., Lindsey D.T., Hibiya Y., Sanocki E., Winderickx J., Teller D.Y., Motulsky A.G. Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. American Journal of Human Genetics. 51:1992;687-700.
3. Drummond-Borg M., Deeb S.S., Motulsky A.G. Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proceedings of the National Academy of Sciences USA. 86:1989;983-987.
4. Hayashi S., Ueyama H., Tanabe S., Yamade S., Kani K. Number and variations of the red and green visual pigment genes in Japanese men with normal color vision. Japanese Journal of Ophthalmology. 45:2001;60-67.
5. Hayashi T., Motulsky A.G., Deeb S.S. Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. Nature Genetics. 22:1999;90-93.
6. Jørgensen A.L., Deeb S.S., Motulsky A.G. Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans. Proceedings of the National Academy of Sciences USA. 87:1990;6512-6516.
7. Jørgensen A.L., Philip J., Raskind W.H., Matsushita M., Christensen B., Dreyer V., Motulsky A.G. Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. American Journal of Human Genetics. 51:1992;291-298.
8. Kainz P.M., Neitz M., Neitz J. Molecular genetic detection of female carriers of protan defects. Vision Research. 38:1998;3365-3369.
9. Macke J.P., Nathans J. Individual variation in the size of the human red and green visual pigment gene array. Investigative Ophthalmology and Visual Science. 38:1997;1040-1043.
10. Nathans J., Piantanida T.P., Eddy R.L., Shows T.B., Hogness D.S. Molecular genetics of inherited variation in human color vision. Science. 232:1986a;203-210.
11. Nathans J., Thomas D., Hogness D.S. Molecular Genetics of human color vision: the genes encoding blue, green, and red pigments. Science. 232:1986b;193-202.
12. Neitz J., Neitz M., Kainz P.M. Visual pigment gene structure and the severity of color vision defects. Science. 274:1996;801-804.
13. Oda S., Ueyama H., Tanabe S., Tanaka Y., Yamade S., Kani K. Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis. Current Eye Research. 21:2000;767-773.
14. Ueyama H., Kuwayama S., Imai H., Tanabe S., Oda S., Nishida Y., Wada A., Shichida Y., Yamade S. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochemical and Biophysical Research Communications. 294:2002;205-209.