Molecular patterns of X chromosome-linked color vision genes among 134 menof European ancestry

Journal Article · Wed Feb 01 00:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.3.983· OSTI ID:5052120

Drummond-Borg, M; Deeb, S S; Motulsky, A G ^[1]

---

1. Univ. of Washington, Seattle (USA)

The authors used Southern blot hybridization to study X chromosome-linked color vision genes encoding the apoproteins of red and green visual pigments in 134 unselected Caucasian men. One hundred and thirteen individuals (84.3%) had a normal arrangement of their color vision pigment genes. All had one red pigment gene; the number of green pigment genes ranged from one to five with a mode of two. The frequency of molecular genotypes indicative of normal color vision (84.3%) was significantly lower than had been observed in previous studies of color vision phenotypes. Color vision defects can be due to deletions of red or green pigment genes or due to formation of hybrid genes comprising portions of both red and green pigment genes. Characteristic anomalous patterns were seen in 15 (11.2%) individuals: 7 (5.2%) had patterns characteristic of deuteranomaly, 2 (1.5%) had patterns characteristic of deuteranopia, and 6 (4.5%) had protan patterns. Previously undescribed hybrid gene patterns consisting of both green and red pigment gene fragments in addition to normal red and green genes were observed in another 6 individuals (4.5%). Thus, DNA testing detected anomalous color vision pigment genes at a higher frequency than expected from phenotypic color vision tests.

• OSTI ID: 5052120
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:3; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
VISION
HEREDITARY DISEASES
X CHROMOSOME
DNA HYBRIDIZATION
EYES
GENE MUTATIONS
MEN
PHOSPHORUS 32
PIGMENTS
SENSE ORGANS DISEASES
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BODY
BODY AREAS
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
FACE
HEAD
HETEROCHROMOSOMES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MALES
MAMMALS
MAN
MUTATIONS
NUCLEI
ODD-ODD NUCLEI
ORGANS
PHOSPHORUS ISOTOPES
PRIMATES
RADIOISOTOPES
SENSE ORGANS
VERTEBRATES
550401* - Genetics- Tracer Techniques