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Showing papers by "Arno G. Motulsky published in 1991"



Book ChapterDOI
01 Jan 1991
TL;DR: Differences between monogenic and common diseases are outlined and various genetic approaches with particular emphasis on linkage and association studies are discussed.
Abstract: Most common diseases have a genetic component. Multiple genes interacting with the environment are usually operative. Heterogeneity in etiology often occurs. Differences between monogenic and common diseases are outlined. Utilization of intermediate phenotypes rather than of the common disease per se as the diagnostic trait may be helpful for genetic analysis. Various genetic approaches with particular emphasis on linkage and association studies are discussed.

4 citations


Book ChapterDOI
01 Jan 1991
TL;DR: Genetic studies of blood pressure require attention to intermediate phenotypes with effects that are close to the mechanisms involved in blood pressure regulation, as shown by studies of red cell sodium-lithium countertransport.
Abstract: Hypertension represents the upper range of the continuous distribution of blood pressure seen in human populations. High blood pressure is a multifactorial trait requiring both genetic and environmental factors for its manifestation. Genetic heterogeneity is likely. Certain underdeveloped populations have no hypertension but some individuals from such groups have the genetic make-up to develop high blood pressure when exposed to Western-style-environments. The specific genes involved in human hypertension are largely unknown. Genetic studies of blood pressure require attention to intermediate phenotypes with effects that are close to the mechanisms involved in blood pressure regulation. Ion exchange across cell membranes in kidney and/or smooth muscle cells may be involved, as shown by studies of red cell sodium-lithium countertransport (CT). A unique single gene appears to be responsible for elevated CT and may contribute as much as one-fifth of the attributable risk for systolic hypertension. Genetic animal models for hypertension may not reflect the genes operative in human hypertension.

4 citations