ABSTRACT

After it was shown in the latter half of the last century that the genes are located on the chromosomes and the nucleic acid has a double-helical configuration, there have been significant developments in the clinical use of genetic science. The genetic information encoded in the human genome, which consists of approximately three billion base pairs and thirty thousand genes, is expressed by the “central dogma” mechanism and is functionalized by the proteins. The human genome has the ability of guiding tissue differentiation via the homeobox genes. DNA damage can be repaired by various repair mechanisms. However, malfunctioning in these repair mechanisms may result in biologically significant changes in the human genome (i.e., mutations). Genetic diseases display specific inheritance patterns depending on certain characteristics of the mutant allele. As a result of recent technological advances, chromosome and DNA analyses, as well as prenatal and preimplantation genetic diagnoses are currently available, and significant developments do occur in the field of gene therapies. For this reason, collaboration of ophthalmologists and clinical geneticists carries utmost importance for many patients, members of their families and future generations. Herein, we aimed to review the basic concepts of genetics and the genetic regulation of ocular development in order to ease the understanding and interpretation of genetic eye diseases and help ophthalmologists follow the new developments in the field of ophthalmic genetics. (Turk J Ophthalmol 2012; 42: 370-7)

Keywords: Genetics, human genome, mutation, genetic tests