Disease response genes, definition

As general knowledge of the role of the gene in biology and in the practice of medicine increases, the definitions of race and ethnicity are likely to evolve in social discourse to reflect a more scientific understanding of biological diversify. The value of race as a predictor of disease and response to, or compliance with, drug therapy is an area of considerable debate. The... 

This is an inherited disease whose molecnlar mechanism has been elucidated in the last few years by locating and isolating the defective gene responsible for the disease (Hooper, 1989). Understanding the fnnction and the mechanism of action of the protein by expression studies and electrophysiology combined with the definition of the nature of the defect in the disease state has provided novel avenues for the therapy of CF (Widdicombe and Wine, 1991 Tsui and Bnchwald, 1991 Collins, 1992). 

Summarizing the available information one has to conclude that the family observations definitely support the assumption of a single gene locus to be responsible for the disease entity of hypercholesterolemia. The claim for complete dominance of the pathologic gene over its normal allele, viewing the great majority of patients with most severe hypercholesterolemia and xanthomatosis as well as... 

The situation in conditions where the gene defect is known differs in many aspects from those where only the localization is known. The identification of the responsible mutation in principle does allow a definite diagnosis of the condition without a further investigation or clinical examination. The detection of the mutation in Alport disease for example can replace further clinical or family evaluation. The same applies to the metabolic defects underlying some inherited causes of nephrolithiasis. But even in diseases where a gene is identified, specific problems can limit the practical application ... 

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