Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals

Article Abstract:

A new analytical approximation approach is employed for estimating the multipoint identity by descent (IBD) probabilities in pedigrees with distantly related individuals. This approach is engineered into a computer program called 'accurate linkage analysis of distantly related individuals (ALADIN)' that uses a clustered-markers approach.

Usage, Markov processes, Linkage (Genetics), Pedigree analysis

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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

Article Abstract:

Array-based molecular strategies are employed to identify the gene responsible for the onset of action myoclonus-renal failure syndrome (AMRF). The myoclonus epilepsy and focal glomerulosclerosis is usually caused due to the deficiency of SCARB2/LIMP-2 protein in humans.

Causes of, Membrane proteins, Genetic research, DNA microarrays, Myoclonus

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Cathepsin D deficiency is associated with a human neurodegenerative disorder

Article Abstract:

A novel disorder is reported in a child with early blindness and progressive psychomotor disability. Two missense mutations are identified and are found to cause markedly reduce proteolytic activity and a diminished amount of cathepsin D in patient fibroblasts.

Fibroblasts, Cathepsins, Neurodegenerative diseases

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