Porth's Essentials of Pathophysiology, 4e - page 107

87
ur hereditary information is stored in the chemi-
cal structure of
deoxyribonucleic acid
(DNA), an
extremely stable macromolecule. Deoxyribonucleic acid
contains within its structure the basic information
needed to direct the function of our cells, influence our
appearance, and how we respond to our environment,
and serve as the unit of inheritance that is passed on
from generation to generation. Our DNA can also influ-
ence disease susceptibility and how we react to drugs.
A gene is a locatable segment or segments of DNA
sequence that encodes a set of functional products, typi-
cally proteins. Genetics is the study of genes. An under-
standing of the role that genetics plays in the pathogenesis
of disease has expanded greatly over the past century. It
is now apparent that many diseases, including cancer,
diabetes, and cardiovascular diseases, have a genetic
component. At the same time, genetic advances have
led to new methods for early detection and more effec-
tive treatment. Advances in immunogenetics have made
compatible blood transfusion and organ transplants a
reality, and recombinant DNA technology has provided
the methods for producing human insulin, growth hor-
mone, and clotting factors. Perhaps the most extensive
use of gene technology involved the Human Genome
Project, begun in 1990 and completed in 2003. The goal
of this international effort was to sequence the human
genome and map all of its genes.
This chapter includes discussions of genetic control
of cell function, chromosomes, patterns of inheritance,
and gene technology.
Genetic Control of Cell
Function
The genetic instructions for protein synthesis are
encoded in the DNA contained in the cell nucleus.
Because of its stable structure, the genetic information
carried in DNA can survive the many stages of cell divi-
sion involved in the day-to-day process of cell renewal
and tissue growth. Its stable structure also allows the
information to survive the many processes of reduction
O
Genetic Control
of Cell Function
and Inheritance
5
C h a p t e r
Genetic Control of Cell Function
DNA Structure and Function
Double Helix and Base Pairing
Packaging of DNA
Genetic Code
DNA Repair
Genetic Variability
Mitochondrial DNA
From Genes to Proteins
RNA Structure and Function
Transcription
Translation
Regulation of Gene Expression
Chromosomes
Cell Division
Chromosome Structure
Patterns of Inheritance
Definitions
Mendel Laws
Genetic Imprinting
Gene Technology
Gene Mapping
The Human Genome Project
Genetic Mapping Methods
Haplotype Mapping
Recombinant DNA Technology
Gene Isolation and Cloning
Pharmaceutical Applications
DNA Fingerprinting
Gene Therapy
RNA Interference Technology
1...,97,98,99,100,101,102,103,104,105,106 108,109,110,111,112,113,114,115,116,117,...1238
Powered by FlippingBook