2. DNA, RNA, and Protein
Deoxyribonucleic acid (DNA) The genetic
material of cells; made of chemical building
blocks called nucleotides arranged in a double-
stranded helix. DNA contains all of the
instructions needed to direct the activities of
cells.
3. Genes and Heredity
Gene—a segment of a DNA molecule; genes
are the basic building blocks of inheritance
Chromosome—a strand of DNA containing a
number of genes
Mitosis—the process by which somatic cells
duplicate themselves, resulting in genetically
identical cells with 46 chromosomes
4. • Base Pairs
• Adenine
• Guanine
• Cytosine
• Thymine
• The combination and
sequence of these
base pairs is the
basic code of life on
planet earth
6. Patterns of Heredity
Alleles —pairs of corresponding genes located
at specific positions on specific chromosomes
Homozygous—a condition in which an
individual has a pair of identical alleles at a
particular position
Heterozygous—a condition in which an
individual has a pair of non-identical alleles at a
particular position
7. Genotype and Phenotype
Genotype—a person’s genetic
makeup as determined at the
moment of fertilization
Phenotype—the observable
expression of a person’s genotype
11. Polygenic Inheritance
• Many traits such as height, shape, weight,
color, and metabolic rate are governed by the
cumulative effects of many genes.
• Polygenic traits are not expressed as
absolute or discrete characters,
• Polygenic traits are recognizable by their
expression as a gradation of small
differences
12. Skin Color
• Human skin color is a good example of polygenic (multiple
gene) inheritance.
• Capital letter genes (A, B and C) control dark
pigmentation.
• Lower case (a, b & c) control light pigmentation
• All "dominant" genes (AABBCC) has the maximum
amount of melanin and very dark skin.
• All "recessive" small case genes (aabbcc) has the
lowest amount of melanin and very light skin.
16. Sex Linked Traits
• Some genes that cause certain phenotypes are located on
the X and Y chromosome
• These chromosomes are not identical so there are some
interesting inheritance patterns for these sex linked traits
• Mothers are XX so they can only give an X
• Fathers are XY so if they give an X the child will be a
girl; a Y and the child is a boy.
• If the child is a Boy we can be certain he got his X from
his mother.
21. Chromosomal Disorders
Down Syndrome—Trisomy 21
an extra chromosome exists
on the 21st pair
Turner Syndrome—females
with Turner Syndrome and
missing an X chromosome
Fragile X Syndrome—the most
common cause of intellectual
disability in males
22. Fragile X
• It is the most common
cause of genetically-
inherited mental
impairment.
• Abnormality on the X
chromosome which is
restricted or broken
• Retardation, Autism,
Hyperactivity, Tactile
Sensitivity
24. X Y Abnormalities
• Klinefelter’s Syndrome
• An extra X chromosome in a male.
• At puberty the body does not know
whether to mature as a male or
female.
• Breasts may form,
underdevelopment of male genitals
and marked weight gain can be
some of the symptoms.
25. Genetic Counseling
Provides guidance for parents about the
possibility of genetic disorders in their
future children based on an extensive
health history of both parents’ families
over as many generations as possible
29. Genetic (Genomic) Imprinting
• The phenomenon of parent-of-
origin gene expression. The
expression of a gene depends
upon the parent who passed on
the gene.
• They are due to deletion of the
same part of chromosome 15.
• Father = Prader-Willi
• Mother = Angelman Syndrome.
Editor's Notes
Key question 2: How are traits passed from generation to generation?
LO 2.3: Explain how genes get passed from generation to generation and produce variability in human development.
Figure 2.3: PKU Transmission
PKU transmission is revealed sequentially via a vertical click and reveal widget.
LO 2.2: Explain the indirect pathway by which genes affect human behavior, using the example of fragile X syndrome.
Figure 2.2: Fragile X Syndrome
Figure 2.2 illustrates the pathway from gene to behavior. Fragile X example is revealed sequentially via a vertical click and reveal widget. The pathway involves the four levels in the developmental systems model discussed at the end of this chapter (genes, neural activity, behavior/cognition, and the environment). Figure 2.2 gives you a feeling for the ways in which pathways from genes to behavior work for one genetic disorder. However, scientists are still filling in the steps in these pathways for the more than 4,000 rare single-gene disorders found in the human population.
LO 2.5: Explain how scientists identify genetic and environmental contributions to complex traits such as IQ.
Figure 2.4: Colorado Adoption Study Results
Parent–offspring correlations were obtained for general cognitive ability at ages 3, 4, 7, 9, 10, 12, 14, and 16 years for three groups: biological mothers and adopted-away children (BM-AC), adoptive parents and adopted children (AP-AC), and control parents and control children (CP-CC). The correlations are the weighted average of mothers and fathers for the latter two groups.
Ask students to interpret the findings of the graph. How do they explain the results here?
LO 2.8: Describe how the three types of gene–environment correlations help explain findings of twin and adoption studies.
In gene–environment correlations, genetic variations among people influence the environment to which they are exposed.
Passive gene–environment correlations result when children inherit genotypes associated with family environment. Evocative gene–environment correlations occur when individuals evoke reactions from the environment based on genetic predispositions. Active gene–environment correlations occur when the individual seeks out environments that support genetic predispositions.
Research evidence supports the roles of passive, evocative, and active correlations in development.
LO 2.10: Describe evidence from animal and human studies that environments influence gene expression.
Epigenesis refers to chemical processes that surround the gene to control expression of the gene. Unlike genetic mutations, epigenetic effects do not alter the DNA sequence in activating or silencing gene expression. Epigenesis works in humans by attaching methyl groups to DNA, reducing expression of some genes (Szyf & Bick, 2013).
Evidence for the effects of epigenetic changes comes from twin studies (Fraga et al., 2005; Petronis, 2006) and studies of the impact of stress in the first four years of life (Essex et al., 2013; Romens, McDonald, Svaren & Pollack, 2015).
Chemicals known as methyl groups (Me) can attach at various points to the DNA strand, reducing the activity of genes in those locations.