Determination of risk factors for cataract by aldose reductase genotype

Abstract

This invention relates to methods for determining the risk of developing cataract in mammals, and, more specifically, in mammals, including humans, with non-insulin dependent diabetes. The methods are performed by determining the presence or absence of genetic markers in genomic DNA. The presence of a Z-2 allele, a microsatellite marker of the aldose reductase, is indicative of an increased risk for developing cataract. The presence of Z-4, a microsatellite allele of the aldose reductase gene, indicates a decreased risk for developing cataract. The methods comprise nucleic acid probes that hybridize to a nucleic acid encoding the microsatellite region of the mammalian aldose reductase gene. The probes may also be immobilized on a solid support to form a microarray. In addition, this invention is directed to methods for treating a mammal with a genetic predisposition for developing cataract; following a screening method that detects a Z-2 microsatellite marker of an aldose reductase gene the mammal is treated with an inhibitor of aldose reductase.

Description

technical field [0001] The present invention relates to methods and compositions for determining the risk of developing cataracts in mammals, further including patients with non-insulin dependent diabetes mellitus. Exemplifying the present invention is the association of discrete microsatellite markers in the promoter region of the mammalian aldose reductase gene with a genetic predisposition for cataract development, particularly in individuals with non-insulin-dependent diabetes mellitus, including those with type II diabetes Chinese. The method includes detecting microsatellite markers Z-2 and Z-4, which comprise alleles of the mammalian aldose reductase gene. The absence of the Z4 allele and the presence of the Z2 allele showed an increased risk of cataract development using nucleic acid samples from the individual under test. On the contrary, if the Z2 allele is absent or the Z4 allele is present in the nucleic acid sample, the risk of cataract is reduced. technical b...

AI Technical Summary

Problems solved by technology

Fortunately, aldose reductase has a low affinity for glucose and little sorbitol is produced under euglycemic conditions

Images