Mutational analysis of
CYP1B1 variant
Mutation
Primary open angle glaucoma
Sanger sequencing
Journal
Saudi journal of biological sciences
ISSN: 1319-562X
Titre abrégé: Saudi J Biol Sci
Pays: Saudi Arabia
ID NLM: 101543796
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
23
06
2021
revised:
02
08
2021
accepted:
19
08
2021
entrez:
10
1
2022
pubmed:
11
1
2022
medline:
11
1
2022
Statut:
ppublish
Résumé
Primary open angle glaucoma (POAG) occurs due to the discrepancies in the angle of anterior chamber characterized by the alterations in intraocular pressure, optic nerves head changes and central loss of visual field. In molecular research, After consent, total n = 88 POAG patients undergone through standard ophthalmological investigations before their recruitment in this study. The blood samples were utilized for DNA isolation. The genotyping of It was evident that the frequencies of heterozygous G/A and homozygous mutants A/A genotypes were higher in males (36.5%, 7.7%) than females (30.6%, 2.8%) of POAG population. Furthermore, the juvenile patients exhibit high manifestation of carrier genotype (66.6%) in comparison to adult patients (31.7%). The results also indicated the significant relationship of intraocular pressure with homozygous mutant A/A genotype of Our study provided the mutational data of
Sections du résumé
BACKGROUND
BACKGROUND
Primary open angle glaucoma (POAG) occurs due to the discrepancies in the angle of anterior chamber characterized by the alterations in intraocular pressure, optic nerves head changes and central loss of visual field. In molecular research,
METHODS
METHODS
After consent, total n = 88 POAG patients undergone through standard ophthalmological investigations before their recruitment in this study. The blood samples were utilized for DNA isolation. The genotyping of
RESULTS
RESULTS
It was evident that the frequencies of heterozygous G/A and homozygous mutants A/A genotypes were higher in males (36.5%, 7.7%) than females (30.6%, 2.8%) of POAG population. Furthermore, the juvenile patients exhibit high manifestation of carrier genotype (66.6%) in comparison to adult patients (31.7%). The results also indicated the significant relationship of intraocular pressure with homozygous mutant A/A genotype of
CONCLUSIONS
CONCLUSIONS
Our study provided the mutational data of
Identifiants
pubmed: 35002398
doi: 10.1016/j.sjbs.2021.08.066
pii: S1319-562X(21)00754-3
pmc: PMC8716894
doi:
Types de publication
Journal Article
Langues
eng
Pagination
96-101Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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