Evaluation of MFRP as a candidate gene for high hyperopia

[摘要] Purpose: Mutations in the membrane-typefrizzled-related protein (MFRP) gene have been identified inpatients with pathologic high hyperopia associated with nanophthalmosor microphthalmia. This study is to test if a mutation in MFRPis responsible for physiologic high hyperopia. Methods: DNA was prepared from venousleukocytes of 51 patients with physiologic high hyperopia (refractionof spherical equivalent ≥+5.00 [diopters] D) and 96 controls(refraction of spherical equivalent between −0.50 D and +1.00 D). Thecoding regions and adjacent intronic sequence of MFRP wereamplified by polymerase chain reaction (PCR) and were then analyzed bycycle sequencing. Variations detected were further evaluated in normalcontrols and available family members by heteroduplex- single-strandconformation polymorphism (SSCP) analysis or sequencing. Results: The average sphericalrefractive error of patients was +8.41 D in the right eye (from +6.00 Dto +16.5 D) and was +8.76 D in the left eye (from +6.00 D to +16.5 D).Five novel heterozygous variations in MFRP,c.55–14_55–13insGTAT, c.496C>G, c.664C>A, c.669G>A, andc.770G>A, were identified. Of these, c.664C>A (p.Pro222Thr) andc.669G>A (p.=) were not observed in the 96 normal controls. Inaddition, one known c.192C>G substitution and five single nucleotidepolymorphisms (SNPs; rs883247,rs3814762,rs36015759,rs2510143,and rs35885438)were detected. Conclusions: Several novel variations inMFRP were detected in Chinese. Our results imply that MFRPis less likely to play a major role in physiologic high hyperopia.

[学科分类] 生物化学/生物物理