Chapter 24

Lecture Outline
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 Genes and Genomics
Genetic : the study of the inheritance of characteristics.
Genes: DNA sequences that encode specific proteins.
Genome:
• A complete set of genetic instructions in a person’s cells.
• Written in the language of DNA molecules.
• DNA consists of a sequence of nucleotide building blocks A, G, C, & T.
• All human genomes are >99.9% alike in their DNA sequence.

Exome: consists of the protein-encoding genes of the genome; this accounts for <2%
or the 3.2 billion DNA bases of the human genome.
Genetic information is encoded in DNA, and expressed in RNA and protein; influences
cells, tissues, and the person; is also passed on to next generation.
Environment affects how genes are expressed, under what circumstances they are
transcribed, and which mRNA will be translated into protein.

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 Figure 24.1 Genes and Genomics

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 Figure 24.2 Genes and Genomics

Cystic fibrosis is a genetic disorder, that results in defective chloride ion

channels in cell membranes. This results in thick mucus, which adversely
affects a variety of organs, especially the lungs and pancreas.

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 Modes of Inheritance
• Genetics has the power of prediction.
• Knowing how genes are distributed in meiosis and the combinations in
which they join at fertilization makes it possible to calculate the
probability that a certain trait will appear in the offspring of 2 particular
parents.
• Patterns in which genes are transmitted in families are termed modes of
inheritance.

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 Figure 24.3 Chromosomes and Genes are Paired
Karyotype: chart displaying 23 chromosome pairs in size order
This normal karyotype shows 23 pairs of chromosomes:
• Pairs 1-22 are autosomes , which determine traits, but not sex.
• Pair 23 is the sex chromosome (XX female, XY male).

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 Chromosomes and Genes are Paired 1

• Each chromosome contains hundreds or thousands of genes.

• Human cells have 2 copies of each chromosome, and 2 copies of genes.
• Members of a gene pair are in same location on homologous
chromosomes.
• Alleles: various forms of a gene, which differ in DNA sequence.
• A person who has 2 identical alleles of a particular gene is homozygous
for that gene.

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 Chromosomes and Genes are Paired 2

A person with 2 different alleles for a gene is heterozygous.

The particular combination for a particular gene or genes / a person's alleles
constitutes the genotype.
The appearance of a trait or health condition that develops as a result of the
ways the genes are expressed is termed the phenotype.
Wild type alleles are normal in function or most common in a population.
A mutant allele is a change from the wild type, or uncommon phenotype; not
all mutations cause disease.

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 Dominant and Recessive Inheritance 1

• Dominant/Recessive Inheritance:
• Inheritance in which the phenotype of a heterozygote is determined
by the dominant allele.
• For many genes, 1 allele determines the phenotype in heterozygotes.
• Dominant allele masks the phenotype of the recessive allele.
• Recessive allele is expressed only if present in both alleles.
• Alleles that cause disease can be either dominant or recessive.

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 Dominant and Recessive Inheritance 2

• Autosomal alleles are carried on a non-sex chromosome.

• X-linked alleles are carried on the X chromosome.
• Y-linked alleles are carried on the Y chromosome.
• Autosomal conditions affect both genders equally.
• People that inherit recessive conditions have 2 heterozygous parents
(carriers); these conditions can skip generations.
• People that inherit dominant conditions have 1 affected parent; these
conditions do not skip generations.

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 Tools to Explain Inheritance
Punnett Square:
• Table used to predict probabilities of genotypes in offspring for certain
traits.
• Square consists of 4 boxes.
• Mother’s alleles are listed above boxes, and father’s are listed on left side.
• Each box represents a possible combination of alleles at fertilization.

Pedigree:
• Diagram showing family relationships, and known genotypes and
phenotypes for each family member.
• Circles represent females, and squares represent males.
• Shaded areas represent affected people, half-shaded areas are carriers,
unshaded are unaffected people.

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 Figure 24.4 Tools to Explain Inheritance
Cystic fibrosis:
• An autosomal recessive disorder.
• For 2 heterozygous parents, offspring can have 3
different gene combinations:

+ + = homozygous dominant; healthy, noncarrier

+ cf = heterozygous, unaffected, carrier

cf = homozygous recessive; affected with CF

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 Figure 24.5 Tools to Explain Inheritance
Huntington Disease:
An autosomal dominant disorder
involving:
• Loss of coordination.
• Uncontrollable dance-like movements.
• Behavioral changes.
• Cognitive decline.

Dominant condition, so a child will

have the disorder if only 1 mutant
allele is inherited

+ + = healthy, unaffected
+ HD = affected with HD

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 Different Dominance Relationships: Codominance
Codominance:
Inheritance in which 2 different alleles in a heterozygote are expressed
ABO blood type is an example of codominance; 2 of the 3 alleles determining
ABO blood group are codominant:
• The 3 alleles of ABO blood typing are A , B ,and i.
A B
• codes for antigen A on surface of red blood cells, and
codes for antigen B.
A B
• The alleles and are codominant; when present together, both
alleles are expressed, and antigens A and B are both present.
A A A
• A person with type A may have the genotype or i.
B B B
• A person with type B may have the genotype or i.
A B
• A person with type AB must have the genotype .
• A person with type O blood must have the genotype ii.
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 Multifactorial Traits
Multifactorial (complex) traits:
• Traits affected by one or more genes plus environmental factors.
• Examples include height and skin color.
• Common diseases such as heart disease, diabetes mellitus, hypertension,
and cancers are multifactorial.

Polygenic traits:
• Traits determined by more than one gene.
• Most polygenic traits also have environmental input.
• Continuously varying trait is a polygenic trait with many degrees of
expression, due to contributions of several genes.
• Examples include height, skin color, and eye color.

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 Figure 24.7 Multifactorial Traits

• Example of a polygenic trait: height.

• Height is also a continuously varying trait; shows many degrees of
expression, since there are several genes contributing to each
person’s height.

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 Figure 24.8 Multifactorial Traits

• Skin color variations are shown with a model of 3 genes, each with 2
alleles.
• The trait of skin color is thought to involve more than 3 genes.
• Mid-range of skin tones are more common.

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 Figure 24.9 Multifactorial Traits

Eye color is a polygenic trait, and thought to result from the interaction of 2
genes, each having 2 alleles. This model explains 5 human eye colors.

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 Matters of Sex
Human somatic (body, nonsex) cells include an X and a Y chromosome in
males and 2 X chromosomes in females.
• All oocytes carry a single X chromosome.
• Sperm carry either an X or Y chromosome.

Biological sex is determined at conception: a Y-bearing sperm fertilizing an

oocyte conceives a male, and an X-bearing sperm conceives a female.
• An XX child will be female.
• An XY child will be male.

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 Figure 24.10 Sex Determination

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 Figure 24.11 Sex Determination
Maleness is derived from a Y
chromosome gene called SRY
(sex-determining region of the Y).
The SRY gene encodes a
transcription factor.
The SRY activates transcription of
genes that direct development of
male structures in the embryo,
while suppressing formation of
female structures.
A female will develop in absence
of SRY transcription factor.

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 Genes on the Sex Chromosomes
X-linked traits:
• Traits transmitted on X chromosome.
• X chromosome has over 1,500 genes; much larger than Y chromosome.
• Most genes on the X chromosome do not have corresponding alleles on
the Y chromosome.

Y-linked traits:
• Traits transmitted on Y chromosome.
• Y chromosome has only 231 protein-encoding genes; shorter than Y.
• Some genes are unique only to the Y chromosome.
• The human male is hemizygous for X-linked traits because he only has 1
copy of each gene found on the X chromosome.
• Examples of recessive X-linked traits expressed more commonly in males:
• Red-green colorblindness.
• Hemophilia.

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 Hemophilia: An X-linked Trait
Hemophilia:
• An example of X-linked recessive inheritance.
• A disorder of blood clotting.
• Passed from mother (heterozygote, carrier) to son.
• Each son has a 50% chance of receiving the recessive allele from the
mother.
• A son who inherits 1 recessive allele from mother will have the disease,
since there is no allele on the Y chromosome to mask the mutant allele.
• Each daughter has a 50% chance of receiving the recessive allele from
the mother.
• A daughter with 1 recessive allele will be a carrier, but will not develop
the disease, because she has another X chromosome with a dominant
allele to mask the recessive allele.
• Very unusual for a daughter to have hemophilia; this would require a
carrier or affected mother, and an affected father.

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 Chromosome Disorders
• Deviations from the normal chromosome number of 46 produce
syndromes due to excess or deficit of genes.
• Chromosomes can also rearrange, as in inversion of a part of a
chromosome, or exchange of parts between nonhomologous
chromosomes.
• Abnormalities in chromosome number may involve single chromosomes
or entire sets of chromosomes.
• Euploid: having a normal number of chromosomes.

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 Polyploidy
Polyploidy:
• The most drastic upset in chromosome number.
• This involves having an entire extra set (or sets) of chromosomes.
• Results from formation of a diploid, rather than a normal haploid, gamete.
• If a diploid gamete participates in fertilization with a haploid gamete, the
zygote is triploid, having 3 copies of each chromosome.
• Most triploid embryos or fetuses die, but occasionally an infant survives a
few days with many abnormalities.
• Skeletal muscle cells are multinucleated, so they have more than typical
number of chromosomes, but this has no harmful effects on health.

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 Clinical Application 24.1
Down Syndrome
Most common autosomal aneuploid condition
Can arise in 2 ways:
• Trisomy 21: having 3 copies of chromosome 21.
• Translocation: having 1 copy of chromosome 21 exchange parts with a
different chromosome in a gamete, and fertilize ovum receiving excess
material from chromosome 21.
Person has short stature, protruding tongue, thick lips, slanted eyes,
abnormally-shaped ears, heart or kidney defects, varied intellectual
disability, increased chance of developing leukemia, is slow to sit or walk.
People with Down syndrome can learn to do some jobs, and some can read
or use a computer.
Chance of giving birth to a child with Down syndrome increases with age of
mother.
Life expectancy has changed over past 100 years, from 9 to 60 years of age.

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 Figure 24.14 Ultrasound Exam of Fetus
Ultrasound exams use sound waves to detect anatomical abnormalities in the
fetus, such as eye fusion, cleft palate, extra fingers and toes, etc. This shows
normal facial development in a 13-week fetus.

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