Deficiencies in sight with the candidate gene approach

Article Abstract:

Many genes are involved in the structure and function of the eye. There are only a few rare inherited forms retina degeneration for which the biochemical defects that characterize the disease state are known. However, with the use of molecular biological techniques, insights are being gained into the defects that cause other diseases of the eye. The gene that is defective in choroideraemia, a sex-linked (present only in males) inherited form of retinal degeneration, has recently been identified. Researchers were able to isolate the gene involved in the defect by its location on the chromosome. In patients with this defect, the gene was found to contain portions that were either deleted, missing, or had moved to other chromosomal sites. Another scientific approach to isolating genes that are defective in disease is called the candidate gene approach. Genes and the proteins that are encoded by the gene that are known to be involved in malfunctions resulting in disease are analyzed for defects in individuals with the particular disease. For example, in diseases of the retina, proteins involved in phototransduction, the structure of the retina, and vitamin A metabolism can be examined for defects which accompany a disease. It is known that mutations of genes that code for these proteins can lead to the disease state. The goal of genetic research on the retina is to identify genes and their mutations that are present in particular disease states, and to understand the biological defects so that therapies can be developed for specific diseases. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Retinal diseases, Eye, Genetic disorders, Eye diseases, Human chromosome abnormalities

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Isochores result from mutation not selection

Article Abstract:

Mammalian genomes consist of areas of distinct base compositions of isochores. It is uncertain whether the mosaic structure is due to regional variation or natural selection. Two globin pseudogenes Psialpha1 and Psieta living in isochores of different base composition were compared for rate and pattern of nucleotide substitutions. The findings suggest that isochores are the result of mutational biases and not from selection on individual nucleotides.

Genomes, Pseudogenes

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Lateral gene transfer and the nature of bacterial innovation

Article Abstract:

The article discusses research methods used to determine the chemical processes involved in bacteria lateral transfer of gene information and the potential outcomes.

Bacterial genetics, Transferases

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