Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis

Purpose. Congenital color-vision deficiencies are frequent among males, 4.7 -8.0%, suggesting that female carriers are present at a frequency of 9-15%. The purpose of this study was to determine whether carriers could be detec ted by analysis of the visual pigment genes. Methods. DNA from 29 males with congenital color-vision deficiencies, from their mothers, and from 117 randomly-selected females was analyzed. The mos t upstream genes, the downstream genes, and the most downstream genes in th e red/green pigment gene arrays were amplified separately by PCR. Exon 5 of each gene was analyzed by single-strand conformation polymorphisms (SSCP). Results. Analysis of the visual pigment genes suggests that one of the 29 m others examined is a female protan and two others are carriers of both prot an and deutan defects. The remaining 26 mothers were confirmed to be carrie rs of congenital color-vision deficiencies. Unusual patterns were observed in 15 (13%) of the randomly-selected females; among them, 5 appeared to be protan carriers and at least 4 to be deutan carriers. Conclusions. Female carriers of congenital color-vision deficiencies can be detected by analysis of the visual pigment genes. Since the proportion of females showing unusual patterns was slightly higher than expected, some mu st be false-positives and require more detailed examination.