Genetic Polymorphism and Disease PDF

Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins.

Key Features

Describes the genetic polymorphism and its various types

Discusses the role of genetic polymorphisms in modulating the risk of various human diseases

Explores various molecular techniques used for detecting GPs

Characterizes the role of SNPs in modulating the susceptibility of human diseases

Provides a genetic basis for individual variations in response to therapeutics

Authors: Syed Sameer Aga, Mujeeb Zafar Banday, Saniya Nissar