Instructors Manual For
Human Gene�cs 14 th
Edi�on By Ricki Lewis
(All Chapters 100%
Original Verified A+
Grade)
,Chapter 1 The Information in a Human Genome
Chapter Opener
Eve’s Genome
Bioethics
Genetic Privacy and Pandora’s Box
CHAPTER OVERVIEW
Chapter 1 introduces the basic concepts and language of genetics and
genomics, with eclectic examples of how DNA information can impact
daily life. People have access to their own genetic information, and health
care providers are learning how to incorporate DNA data into diagnosing
and treating disease. DNA, genes, chromosomes, exomes, and genomes
are levels of genetic information. They impact biology at the cell, tissue,
organ, individual, family, and population levels. Genes encode proteins;
the exome is the small part of the genome that does so. Human genomes
vary. Most traits arise from interactions of genes and environmental
factors. DNA analysis is useful in establishing identity and in illuminating
history. Several nations store genetic information of citizens in population
biobanks. Precision medicine strives to prevent and treat disease based
on an individual’s gene variants, environmental exposures, and lifestyle
factors. Genetic modification has several applications. Metagenomics
considers species represented by DNA in the environment. The bioethics
box addresses issues of privacy, discrimination, and justice that arise from
use and misuse of genetic information.
CHAPTER OUTLINE
1.1 Introducing Genes and Genomes
1. Genetics is the study of inherited traits and their variation, and how these traits are
passed from one generation to the next (heredity).
2. With continuing analysis of human genome sequences, human genetics has grown
from a largely academic science to touch many areas of health care, with practical
and societal implications. Genetic genealogy considers how people are related and
where their ancestors lived.
3. Genes are the unit of inheritance and are composed of deoxyribonucleic acid
(DNA). Genes instruct cells, the basic units of life, to manufacture specific proteins.
Most genes are in a cell’s nucleus.
4. A genome is an organism’s complete set of genetic information. The exome is the
portion of the genome that encodes proteins.
5. Genomics is a field of study that reveals how closely related we are to each other
and to other species.
6. Bioethics addresses issues of privacy, confidentiality, and discrimination that arise
from knowledge of our DNA sequences.
1.2 Levels of Genetics and Genomics
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
,Instructions and Information: DNA
1. The levels of genetics and genomics are the molecular (DNA structure and function);
cells, tissues, and organs; and families, populations, and species.
2. A DNA molecule consists of “rails” of alternating sugars and phosphates and “steps”
of adenine-thymine (A-T) and guanine-cytosine (G-C) nitrogenous base pairs.
Each three contiguous base pairs encode one of 20 types of amino acids, which
build proteins.
3. DNA copies itself through replication and transmits information, while remaining in
the nucleus, through transcription into RNA.
4. A DNA molecule replicates as the sides of the double helix part and fill in new bases.
5. After transcription, messenger RNA carries DNA information out of the nucleus to
the cytoplasm, where it is used to synthesize proteins, which is called translation.
6. The exome is 1.5% of the 20,325 or so genes of the human genome.
7. Genes can exist in more than one form. Variants (alleles) arise by mutation, which
changes the DNA base sequence. Many studies compare thousands of places in the
genome that vary among populations.
8. Chromosomes consist of hundreds of genes.
9. A human somatic cell has 23 pairs of chromosomes, constituting two copies of the
genome. 22 pairs are autosomes and do not differ between the sexes. One pair are
the sex chromosomes. XX is female; XY is male.
10. A karyotype is a chart of an individual’s chromosomes.
11. A single gene causes a Mendelian trait. One or more genes and environmental
influences cause a complex trait. Most genes do not function alone.
The Body: Cells, Tissues, and Organs
1. The human body is composed of about 30 trillion cells. All cell types except mature
red blood cells contain two copies of the entire genome.
2. The more than 290 specialized, or differentiated, cell types express different
subsets of genes. Differentiated cells interact, forming four basic tissue types that
form organs and organ systems.
3. Stem cells “self-renew” and produce differentiated cells. Self-renewal is essential for
growth, development, and healing.
Relationships: From Individuals to Families
1. Genotype is the allelic makeup of an individual; phenotype is the observable or
measureable expression of an individual’s alleles (traits or health condition).
2. Dominant alleles are expressed when one copy is present. Recessive alleles
require two copies for expression.
3. Pedigrees are diagrams that depict the transmission of recessive and dominant
traits through generations. The proportion of the genome that an individual shares
with an ancestor halves at each generation.
The Bigger Picture: From Populations to Evolution
1. Population genetics concerns allele frequencies in members of the same species in
a specified geographic area.
2. A gene pool is all of the alleles in a given population.
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
, 3. Population genetics has applications in health care and forensics and underlies the
changes of evolution.
4. The more closely two individuals’ DNA sequences match, the more recently they
shared an ancestor.
5. Comparative genomics explores evolutionary relationships among species.
1.3 Applications of Genetics and Genomics
Establishing Identity
1. DNA profiling compares DNA sequences among individuals. The more DNA
sequences individuals share, the more closely related they are and the more recently
they’ve shared ancestors.
2. It is used to establish or rule out identity, clarify relationships or ancestry, and to
evaluate crime scenes, probe sites of natural disasters, reunite families, and test
food for contamination or mislabeling.
Illuminating History
1. DNA analysis can confirm relationships among individuals and determine
where people came from.
2. DNA testing provides information on past epidemics and reveals genetic
diversity of populations.
Biobanks
1. A biobank stores biological samples or DNA sequence data and information on
environmental exposures and lifestyle habits.
2. The largest biobank is the UK Biobank.
3. Biobanks are making efforts to more accurately reflect the diversity of
humanity.
Precision Medicine
1. A precision medicine approach uses DNA data to select treatments for individuals
most likely to be effective and least likely to have intolerable adverse effects.
2. Pharmacogenetics predicts responses of individuals to drugs based on genotypes.
Genetic Modification
1. Genetic modification alters a gene or genome in a way that does not occur
in nature, such as combining DNA sequences from individuals of different
species (recombinant DNA technology).
2. Genetically modified organisms include bacteria that produce human
proteins used as drugs and altered crop plants.
3. Genome editing adds, deletes, or replaces specific genes.
Exome and Genome Sequencing
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
Human Gene�cs 14 th
Edi�on By Ricki Lewis
(All Chapters 100%
Original Verified A+
Grade)
,Chapter 1 The Information in a Human Genome
Chapter Opener
Eve’s Genome
Bioethics
Genetic Privacy and Pandora’s Box
CHAPTER OVERVIEW
Chapter 1 introduces the basic concepts and language of genetics and
genomics, with eclectic examples of how DNA information can impact
daily life. People have access to their own genetic information, and health
care providers are learning how to incorporate DNA data into diagnosing
and treating disease. DNA, genes, chromosomes, exomes, and genomes
are levels of genetic information. They impact biology at the cell, tissue,
organ, individual, family, and population levels. Genes encode proteins;
the exome is the small part of the genome that does so. Human genomes
vary. Most traits arise from interactions of genes and environmental
factors. DNA analysis is useful in establishing identity and in illuminating
history. Several nations store genetic information of citizens in population
biobanks. Precision medicine strives to prevent and treat disease based
on an individual’s gene variants, environmental exposures, and lifestyle
factors. Genetic modification has several applications. Metagenomics
considers species represented by DNA in the environment. The bioethics
box addresses issues of privacy, discrimination, and justice that arise from
use and misuse of genetic information.
CHAPTER OUTLINE
1.1 Introducing Genes and Genomes
1. Genetics is the study of inherited traits and their variation, and how these traits are
passed from one generation to the next (heredity).
2. With continuing analysis of human genome sequences, human genetics has grown
from a largely academic science to touch many areas of health care, with practical
and societal implications. Genetic genealogy considers how people are related and
where their ancestors lived.
3. Genes are the unit of inheritance and are composed of deoxyribonucleic acid
(DNA). Genes instruct cells, the basic units of life, to manufacture specific proteins.
Most genes are in a cell’s nucleus.
4. A genome is an organism’s complete set of genetic information. The exome is the
portion of the genome that encodes proteins.
5. Genomics is a field of study that reveals how closely related we are to each other
and to other species.
6. Bioethics addresses issues of privacy, confidentiality, and discrimination that arise
from knowledge of our DNA sequences.
1.2 Levels of Genetics and Genomics
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
,Instructions and Information: DNA
1. The levels of genetics and genomics are the molecular (DNA structure and function);
cells, tissues, and organs; and families, populations, and species.
2. A DNA molecule consists of “rails” of alternating sugars and phosphates and “steps”
of adenine-thymine (A-T) and guanine-cytosine (G-C) nitrogenous base pairs.
Each three contiguous base pairs encode one of 20 types of amino acids, which
build proteins.
3. DNA copies itself through replication and transmits information, while remaining in
the nucleus, through transcription into RNA.
4. A DNA molecule replicates as the sides of the double helix part and fill in new bases.
5. After transcription, messenger RNA carries DNA information out of the nucleus to
the cytoplasm, where it is used to synthesize proteins, which is called translation.
6. The exome is 1.5% of the 20,325 or so genes of the human genome.
7. Genes can exist in more than one form. Variants (alleles) arise by mutation, which
changes the DNA base sequence. Many studies compare thousands of places in the
genome that vary among populations.
8. Chromosomes consist of hundreds of genes.
9. A human somatic cell has 23 pairs of chromosomes, constituting two copies of the
genome. 22 pairs are autosomes and do not differ between the sexes. One pair are
the sex chromosomes. XX is female; XY is male.
10. A karyotype is a chart of an individual’s chromosomes.
11. A single gene causes a Mendelian trait. One or more genes and environmental
influences cause a complex trait. Most genes do not function alone.
The Body: Cells, Tissues, and Organs
1. The human body is composed of about 30 trillion cells. All cell types except mature
red blood cells contain two copies of the entire genome.
2. The more than 290 specialized, or differentiated, cell types express different
subsets of genes. Differentiated cells interact, forming four basic tissue types that
form organs and organ systems.
3. Stem cells “self-renew” and produce differentiated cells. Self-renewal is essential for
growth, development, and healing.
Relationships: From Individuals to Families
1. Genotype is the allelic makeup of an individual; phenotype is the observable or
measureable expression of an individual’s alleles (traits or health condition).
2. Dominant alleles are expressed when one copy is present. Recessive alleles
require two copies for expression.
3. Pedigrees are diagrams that depict the transmission of recessive and dominant
traits through generations. The proportion of the genome that an individual shares
with an ancestor halves at each generation.
The Bigger Picture: From Populations to Evolution
1. Population genetics concerns allele frequencies in members of the same species in
a specified geographic area.
2. A gene pool is all of the alleles in a given population.
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
, 3. Population genetics has applications in health care and forensics and underlies the
changes of evolution.
4. The more closely two individuals’ DNA sequences match, the more recently they
shared an ancestor.
5. Comparative genomics explores evolutionary relationships among species.
1.3 Applications of Genetics and Genomics
Establishing Identity
1. DNA profiling compares DNA sequences among individuals. The more DNA
sequences individuals share, the more closely related they are and the more recently
they’ve shared ancestors.
2. It is used to establish or rule out identity, clarify relationships or ancestry, and to
evaluate crime scenes, probe sites of natural disasters, reunite families, and test
food for contamination or mislabeling.
Illuminating History
1. DNA analysis can confirm relationships among individuals and determine
where people came from.
2. DNA testing provides information on past epidemics and reveals genetic
diversity of populations.
Biobanks
1. A biobank stores biological samples or DNA sequence data and information on
environmental exposures and lifestyle habits.
2. The largest biobank is the UK Biobank.
3. Biobanks are making efforts to more accurately reflect the diversity of
humanity.
Precision Medicine
1. A precision medicine approach uses DNA data to select treatments for individuals
most likely to be effective and least likely to have intolerable adverse effects.
2. Pharmacogenetics predicts responses of individuals to drugs based on genotypes.
Genetic Modification
1. Genetic modification alters a gene or genome in a way that does not occur
in nature, such as combining DNA sequences from individuals of different
species (recombinant DNA technology).
2. Genetically modified organisms include bacteria that produce human
proteins used as drugs and altered crop plants.
3. Genome editing adds, deletes, or replaces specific genes.
Exome and Genome Sequencing
© McGraw Hill LLC. All rights reserved. No reproduction or distribution without the prior written consent
of McGraw Hill LLC.
