Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis
This study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment genes. Materials and Methods: The data of students who underwent routine CVD screening using the Ishihara color test in Kaohsiung, South...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-10-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/20/15247 |
| _version_ | 1797573642275520512 |
|---|---|
| author | Hsi-Kung Kuo Shih-Ting Tsao Pei-Chang Wu |
| author_facet | Hsi-Kung Kuo Shih-Ting Tsao Pei-Chang Wu |
| author_sort | Hsi-Kung Kuo |
| collection | DOAJ |
| description | This study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment genes. Materials and Methods: The data of students who underwent routine CVD screening using the Ishihara color test in Kaohsiung, Southern Taiwan were analyzed. Furthermore, the DNA samples of 80 randomly selected females and four obligate carriers were analyzed. The most upstream genes, downstream genes, and the most downstream genes in the red/green pigment gene arrays were amplified separately using polymerase chain reaction (PCR), and exon 5 of each gene was analyzed. The prevalence of congenital red–green CVD in this study was 3.46% in males and 0.14% in females. The PCR analysis of the first gene, downstream gene, and last gene revealed normal patterns in 73 normal cases. Seven unusual patterns were detected in two proton carriers and five deutan carriers. Among the randomly selected females, 8.8% (7/80) were CVD carriers. The prevalence of CVD among male Taiwanese students in this study was 3.46%. Female carriers of congenital CVD can be identified by molecular analysis of the visual pigment genes. The proportion of CVD carriers among the randomly selected females was 8.8%, which was slightly higher than expected and further studies are warranted. |
| first_indexed | 2024-03-10T21:11:59Z |
| format | Article |
| id | doaj.art-a4fed496c60e4059a918da4536a79abd |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T21:11:59Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-a4fed496c60e4059a918da4536a79abd2023-11-19T16:43:53ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-10-0124201524710.3390/ijms242015247Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene AnalysisHsi-Kung Kuo0Shih-Ting Tsao1Pei-Chang Wu2Department of Ophthalmology, Kaohsiung Chang-Gung Memorial Hospital, Kaohsiung 833, TaiwanDepartment of Ophthalmology, Kaohsiung Chang-Gung Memorial Hospital, Kaohsiung 833, TaiwanDepartment of Ophthalmology, Kaohsiung Chang-Gung Memorial Hospital, Kaohsiung 833, TaiwanThis study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment genes. Materials and Methods: The data of students who underwent routine CVD screening using the Ishihara color test in Kaohsiung, Southern Taiwan were analyzed. Furthermore, the DNA samples of 80 randomly selected females and four obligate carriers were analyzed. The most upstream genes, downstream genes, and the most downstream genes in the red/green pigment gene arrays were amplified separately using polymerase chain reaction (PCR), and exon 5 of each gene was analyzed. The prevalence of congenital red–green CVD in this study was 3.46% in males and 0.14% in females. The PCR analysis of the first gene, downstream gene, and last gene revealed normal patterns in 73 normal cases. Seven unusual patterns were detected in two proton carriers and five deutan carriers. Among the randomly selected females, 8.8% (7/80) were CVD carriers. The prevalence of CVD among male Taiwanese students in this study was 3.46%. Female carriers of congenital CVD can be identified by molecular analysis of the visual pigment genes. The proportion of CVD carriers among the randomly selected females was 8.8%, which was slightly higher than expected and further studies are warranted.https://www.mdpi.com/1422-0067/24/20/15247color vision deficienciesvisual pigment genesprevalenceproton carrierdeutan carrierpolymerase chain reaction |
| spellingShingle | Hsi-Kung Kuo Shih-Ting Tsao Pei-Chang Wu Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis International Journal of Molecular Sciences color vision deficiencies visual pigment genes prevalence proton carrier deutan carrier polymerase chain reaction |
| title | Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis |
| title_full | Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis |
| title_fullStr | Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis |
| title_full_unstemmed | Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis |
| title_short | Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis |
| title_sort | prevalence of congenital color vision deficiency in southern taiwan and detection of female carriers by visual pigment gene analysis |
| topic | color vision deficiencies visual pigment genes prevalence proton carrier deutan carrier polymerase chain reaction |
| url | https://www.mdpi.com/1422-0067/24/20/15247 |
| work_keys_str_mv | AT hsikungkuo prevalenceofcongenitalcolorvisiondeficiencyinsoutherntaiwananddetectionoffemalecarriersbyvisualpigmentgeneanalysis AT shihtingtsao prevalenceofcongenitalcolorvisiondeficiencyinsoutherntaiwananddetectionoffemalecarriersbyvisualpigmentgeneanalysis AT peichangwu prevalenceofcongenitalcolorvisiondeficiencyinsoutherntaiwananddetectionoffemalecarriersbyvisualpigmentgeneanalysis |