论文信息 - Molecular genetic detection of female carriers of protan defects

Molecular genetic detection of female carriers of protan defects

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.

[1] J. Pokorny,et al. Color vision in two observers with highly biased LWS/MWS cone ratios , 1998, Vision Research.

[2] J. Neitz,et al. Visual Pigment Gene Structure and the Severity of Color Vision Defects , 1996, Science.

[3] A L Nagy,et al. Four cone pigments in women heterozygous for color deficiency. , 1981, Journal of the Optical Society of America.

[4] J. Neitz,et al. Numbers and ratios of visual pigment genes for normal red-green color vision , 1995, Science.

[5] J. Nathans,et al. Molecular genetics of inherited variation in human color vision. , 1986, Science.

[6] A M Prince,et al. PCR: how to kill unwanted DNA. , 1992, BioTechniques.

[7] S. Shevell,et al. Relating color discrimination to photopigment genes in deutan observers , 1998, Vision Research.

[8] I. Schmidt. A sign of manifest heterozygosity in carriers of color deficiency. , 1955, American journal of optometry and archives of American Academy of Optometry.

[9] J. Nathans,et al. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. , 1986, Science.

[10] J. D. Mollon,et al. A study of women heterozygous for colour deficiencies , 1993, Vision Research.