Polymorphisms

Genetic Polymorphism and Disease

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

Genetic Polymorphism and cancer susceptibility

This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

The Role of Gene Polymorphism in Modulating the Immune Responses against Tropical Infectious Diseases