[Analysis of fusion points in hybrid genes and gene deletion for congenital red-green color vision defects].
OBJECTIVE
To investigate gene deletion and the fusion points of hybrid genes in congenital red-green color vision defects.


METHODS
Genomic DNA was collected from 11 protans, 19 deutans and 5 normal controls. Promoter and exons 2-5 of the red and green pigment genes in these subjects were analyzed by using PCR-Heteroduplex-SSCP analysis. The origin and component of each individual gene were determined by comparison with the patterns of known sequence of the red and green visual pigment genes.


RESULTS
Fourteen out of the 30 patients with red-green color vision defects were found to have hybrid gene. The fusion points of the hybrid gene were located in exon 1-intron 1(4 cases), introns 2-3(5 cases) and intron 4 (5 cases).


CONCLUSIONS
The fusion point of a hybrid gene may occur in exon 1-intron 1 and intron 4 as well as in introns 2-3(including exon 3).
Shen
H
H
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, 510060 P. R. China. zoczgj@gzsums.edu.cn
Zhang
Q
Q
Xiao
X
X
Li
S
S
Guo
L
L
Jiang
F
F
D019677:Artificial Gene Fusion; D003117:Color Vision Defects / Q000151:congenital / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D011401:Promoter Regions, Genetic; D012168:Retinal Pigments / Q000235:genetics*
D012168:Retinal Pigments