Clinical Applications of Genetics

摘要: Publisher Summary Researchers have been shifting the focus of genetic testing from Mendelian disorders towards identifying susceptibility alleles that predispose individuals to developing complex traits, such as diabetic nephropathy, and incorporating pharmacogenomic predict drug-genome interactions. Genetic involves analysis chromosomes, deoxyribonucleic acid (DNA), ribonucleic (RNA), or specific metabolites in order detect variants are associated with human disease a pharmacological response. Direct refers gene-specific evaluation DNA and/or RNA sample. The linkage-based is an indirect method examines segregation markers located near within disease-causing gene phenotypes family. increasingly holds potential inform clinical practice impact outcomes patients disrupt structure, function, developmental patterning glomerulus, tubules, urogenital tract, those renal cell tumors. One area where use has increased rapidly hereditary cancer, particularly relation breast/ovarian bowel cancer syndromes. screening may also be help determining chance tumors these disorders. Molecular diagnostic laboratories developed numerous methods scan for mutations genes or, certain cystic fibrosis, screen known cause high percentage affected individuals. current mainstay molecular diagnosis sequence-based protocols examine exons adjacent intronic regions genes.