Biochemical and genetic analysis of ANK in arthritis and bone disease

Article Abstract:

A combination of radiotracer flux experiments and transgenic mice is used to characterize the activity of wild-type and mutant ANK proteins in order to understand the normal function of the ankylosis gene (ANK) protein and its role in human disease. The combined biochemical and genetic data has confirmed an important role for ANK in PPi (pyrophosphate) transport and has provided a model to describe how different types of mutations in ANKH (the mouse ortholog Ank) lead to mutant disease.

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Detecting disease-causing mutations in the human genome by haplotype matching

Article Abstract:

A new strategy for detecting mutations, based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome is described. This approach will reduce the number of sequence variants that is subjected to follow-up analysis by at least a factor 20 when closely matched control sequences are selected from a reference panel with 100 control genomes, which is shown using a theory, simulation and a real data set.

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PLINK: a tool set for whole-genome association and population-based linkage analyses

Article Abstract:

Some of PLINK's main features are highlighted which are applicable to whole genome data sets.

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