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Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Evaluation of MFRP as a candidate gene for high hyperopia
Panfeng Wang1, Zhikuan Yang, Shiqiang Li
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
Molecular Vision
|January 27, 2009
Summary
Mutations in the membrane-type frizzled-related protein (MFRP) gene are not a primary cause of physiologic high hyperopia. This study found novel MFRP variations but did not link them to this common refractive error.
Area of Science:
- Ophthalmology
- Human Genetics
- Molecular Biology
Background:
- Mutations in the membrane-type frizzled-related protein (MFRP) gene are associated with pathologic high hyperopia, nanophthalmos, and microphthalmia.
- Physiologic high hyperopia is a common refractive error with multifactorial causes.
Purpose of the Study:
- To investigate the role of MFRP gene mutations in the development of physiologic high hyperopia.
- To determine if variations in MFRP are a significant genetic factor in this condition.
Main Methods:
- DNA analysis of 51 patients with physiologic high hyperopia (spherical equivalent >= +5.00 D) and 96 controls.
- Sequencing of MFRP coding and adjacent intronic regions.
- Evaluation of detected variations in controls and family members using SSCP analysis or sequencing.
Main Results:
- Five novel heterozygous variations in MFRP were identified in patients.
- Two of these novel variations (c.664C>A and c.669G>A) were not found in controls.
- Known MFRP substitutions and single nucleotide polymorphisms (SNPs) were also detected.
Conclusions:
- The study detected several novel variations in the MFRP gene in a Chinese population.
- These findings suggest that MFRP mutations are unlikely to be a major causative factor in physiologic high hyperopia.