prikaz prve stranice dokumenta Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan
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Scientific paper - Original scientific paper
Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan
Cellular and Molecular Biology, 69 (2023), 9; 1-7. https://doi.org/10.14715/cmb/2023.69.9.1
Khan, Muhammad; Rana, Nehal; ...; ...; Khan, Luqman

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Khan, M., Rana, N. & Khan, L. (2023). Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan. Cellular and Molecular Biology, 69. (9), 1-7. doi: 10.14715/cmb/2023.69.9.1

Khan, Muhammad, et al. "Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan." Cellular and Molecular Biology, vol. 69, no. 9, 2023, pp. 1-7. https://doi.org/10.14715/cmb/2023.69.9.1

Khan, Muhammad, Nehal Rana and Luqman Khan. "Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan." Cellular and Molecular Biology 69, no. 9 (2023): 1-7. https://doi.org/10.14715/cmb/2023.69.9.1

Khan, M., Rana, N. and Khan, L. (2023) 'Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan', Cellular and Molecular Biology, 69(9), pp. 1-7. doi: 10.14715/cmb/2023.69.9.1

Khan M, Rana N, Khan L. Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan. Cellular and Molecular Biology [Internet]. 2023 September 30 [cited 2025 February 28];69(9):1-7. doi: 10.14715/cmb/2023.69.9.1

M. Khan, N. Rana and L. Khan, "Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan", Cellular and Molecular Biology, vol. 69, no. 9, pp. 1-7, September 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:236657. [Accessed: 28 February 2025]

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Metadata
Title (english)Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district Buner, KPK, Pakistan
AuthorMuhammad Khan
AuthorNehal Rana
Author
...
Author
...
AuthorLuqman Khan
Author's institutionUniversity of Rijeka
Faculty of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (english)
This research has been designed to analyze the risk factors of major eye diseases and the genetic alterations contributing to the manifestation of such disease. For this purpose, data was collected from 256 patients diagnosed by an ophthalmologist by using a specialized questionnaire. Blood samples were collected from 100 patients to perform a genetic investigation of cataracts. Whole genomic DNA was extracted from blood samples via the phenol-chloroform method. The purified DNA was used as the template for the amplification of about 400 bp fragments amplifying exons 1 and 2 of the CRYAA gene. The statistical analysis showed that 68% of individuals were blind due to cataracts. During molecular analysis, nucleotide sequences obtained have resulted in one silent mutation that occured at 20 positions in exon 2. It was replacing A>G which in turn substitutes the Lysine at position 70 for Arginine. It was interpreted by statistical analysis that this mutation did not result in a significant change in the CRYAA gene. In addition, protein analysis showed no significant changes in the structure of normal and mutated genes. At last, it is concluded that environmental risk factors play a major role in the studied diseases as compared to genetic factors. It is recommended to extend the study to a larger population to study all exons of the CRYAA gene as well as develop better estimates of the magnitude of the problems of visual loss and eye diseases in the Pakistani population.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleCellular and Molecular Biology
Numberingvol. 69, no. 9, pp. 1-7
p-ISSN0145-5680
e-ISSN1165-158X
DOIhttps://doi.org/10.14715/cmb/2023.69.9.1
URN:NBNurn:nbn:hr:184:236657
Publication2023-09-30
Document URLhttps://cellmolbiol.org/index.php/CMB/article/view/4905
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-11-13 12:03:19