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

Red-green color vision in humans is mediated by the X chromosome-linked highly homologous red and green pigment genes. Color vision defects are caused by deletions and fusions involving these genes. However, we found the frequency of molecular abnormalities among Caucasians to be twice as high as th...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Proceedings of the National Academy of Sciences - PNAS 1990-09, Vol.87 (17), p.6512-6516
Hauptverfasser: Jørgensen, A. Lund, Deeb, S. S., Motulsky, A. G.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Red-green color vision in humans is mediated by the X chromosome-linked highly homologous red and green pigment genes. Color vision defects are caused by deletions and fusions involving these genes. However, we found the frequency of molecular abnormalities among Caucasians to be twice as high as that of phenotypic color vision defects. Among Japanese the frequency of phenotypic and molecular color vision defects was similar (≈ 5%. Among Afro-Americans, molecular defects (largely green-red fusion genes) were at least five times more frequent (21%) than phenotypic color vision defects (≈ 4%). In addition, 35% of Afro-Americans, 2% of Japanese, and
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.87.17.6512