Article
Genetic heterogeneity among blue-cone monochromats.
American journal of human genetics - 1 Nov 1993
Nathans J, Maumenee I H, Zrenner E, Sadowski B, Sharpe L T, Lewis R A, Hansen E, Rosenberg T, Schwartz M, Heckenlively J R
Abstract excerpt
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and green-cone pigments. In 24 subjects, eight genotypes were found that would be predicted to eliminate the function of all of the genes within the array. As observed in an earlier study, the rearrangements involve either...
Topics
- Base Sequence
- Color Vision Defects
- DNA Primers
- Exons
- Female
- Gene Rearrangement
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation