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Mutations in the genes BRCA1 and BRCA2 account for 5%â10% of familial early onset breast cancer. Identification of these mutations allows molecular diagnosis for breast cancer susceptibility. A high through-put automated PCR allelic discrimination assay (ADA) was developed to detect the...
The development of rapid mutation screening procedures allows the detection of mutations in large populations. This is particularly useful for inherited diseases of high mutational heterogeneity, such as haemophilia A and B, because the analysis of the very many different natural mutants clearly...
Quantitative PCR has proved useful for different purposes, including the detection of particular genetic changes, such as deletions and duplications in several inherited disorders. Using patients with the known duplication mutation for Charcot-Marie-Tooth disease Type 1A as examples, the...
As the Human Genome Project is generating an avalanche of genetic information, molecular researchers and clinical practitioners are setting new criteria for evaluation of the links between newly discovered gene mutations and human disorders. These requirements necessitate the development of...
Associations of numerous susceptibility genes with disease risk have been reported. However, objective methods have not been developed to evaluate the conditions under which translation of knowledge about susceptibility genotypes may be clinically informative. We describe and apply a statistical...
The fragile X syndrome is predominantly caused by a large expansion of a CGG trinucleotide repeat in the promoter region of the FMR1 gene, which is associated with methylation and downregulation of transcription. The molecular diagnosis of this disorder is based on repeat size and methylation...
We have tested a simple procedure, disease association by locus stratification, for identifying breast cancer patients with pathogenetic allelic variants at several candidate loci. The strategy was based on the assumption of epistatic interactions of the candidates. We analyzed 66 independent...
Genotyping tests for molecular mutations associated with clinical syndromes increasingly allow clinicians to identify health risks before clinical problems occur, sometimes making prevention possible. The clinical use of these tests, however, can create moral problems for families and serious...
Krabbe disease, a neurodegenerative disorder of autosomal recessive inheritance, is caused by mutations in the galactosylceramidase (GALC) gene. However, its clinical manifestations in terms of time of onset and severity are heterogeneous. Thus, elucidation of the relationship of symptoms to the...
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