Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.
作者： Nikolaos S Kokolakis , Maria Gazouli , Irini P Chatziralli , Chryssanthi Koutsandrea , Zisis Gatzioufas
DOI: 10.3109/13816810.2014.946055
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摘要: AbstractBackground: In this study, we conducted the genotyping of D326Y in COL4A3 and M1327V, as well F1644F COL4A4 polymorphisms, a case–control sample panel Greek origin population.Materials Methods: A panel, with 45 keratoconus (KC) patients 78 healthy controls, were surveyed. DNA from each individual was tested for polymorphisms by direct sequencing.Results: When analyzing Hardy-Weinberg equilibrium, observed no significant deviation expected numbers both KC controls. The genotype frequencies not found to be significantly associated development risk. M1327V AA TT genotypes over-represented individuals.Conclusions: We could hypothesize that mutations genes are involved risk population. Nevertheless, over...
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