Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes
| Autor: | Sang Beom Han, Chee Wai Wong, Si Rui Ng, Jodhbir S. Mehta, Venkatraman Anandalakshmi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
DNA Mutational Analysis Corneal dystrophy lcsh:Chemistry 0302 clinical medicine Genotype-phenotype distinction Transforming Growth Factor beta Genotype lcsh:QH301-705.5 Spectroscopy Aged 80 and over Corneal Dystrophies Hereditary education.field_of_study Extracellular Matrix Proteins General Medicine Exons Middle Aged Phenotype Computer Science Applications Adult corneal dystrophy Population Biology Catalysis Article Inorganic Chemistry 03 medical and health sciences lattice corneal dystrophy Asian People medicine Humans transforming growth factor beta induced protein Physical and Theoretical Chemistry education Molecular Biology Genetic Association Studies Aged aggregation disorders Organic Chemistry medicine.disease Molecular biology eye diseases granular corneal dystrophy Granular corneal dystrophy 030104 developmental biology TGFBI lcsh:Biology (General) lcsh:QD1-999 Mutation 030221 ophthalmology & optometry Lattice corneal dystrophy |
| Zdroj: | International Journal of Molecular Sciences Volume 22 Issue 3 International Journal of Molecular Sciences, Vol 22, Iss 1230, p 1230 (2021) |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms22031230 |
| Popis: | Background: To evaluate the distribution of the transforming growth factor-beta induced (TGFBI) corneal dystrophies in a multi-ethnic population in Singapore, and to present the different phenotypes with the same genotype. Methods: This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype. Genomic DNA was extracted from the blood samples and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally for genotype analysis. Results: Regarding phenotypes, the study patients comprised 11 (34.4% 8 with R555W and 3 with R124H mutation) patients with granular corneal dystrophy type 1 (GCD1), 6 (18.8% 5 with R124H and 1 with R124C mutation) patients with GCD2, 13 (40.6% 7 with R124C, 2 with H626R, 2 with L550P, 1 with A620D and 1 with H572R) patients with lattice corneal dystrophy (LCD) and 2 (6.3% 1 with R124L and 1 with R124C) patients with Reis&ndash Bü ckler corneal dystrophy. Regarding genotype, R124H mutation was associated with GCD2 (5 cases 62.5%) and GCD1 (3 cases 37.5%). R124C mutation was associated with LCD (7 cases 87.5%) and GCD2 (1 case 12.5%). All the 8 cases (100%) of R555W mutation were associated with GCD1. Conclusions: Although the association between genotype and phenotype was good in most cases (65.7% 21 of 32 patients), genotype/phenotype discrepancy was observed in a significant number. |
| Databáze: | OpenAIRE |
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