Part I

Heredity and Environment

Chapter Three

The Genetic Code

From One Cell to Many
From Genotype to Phenotype
Chromosomal and Genetic
Abnormalities
1

The Genetic Code

Genes play a leading role in the drama of human
development, yet they rarely take center stage.
Genes are pervasive and powerful, but they are
also hidden and elusive.

What Genes Are

DNA (deoxyribonucleic acid)

Molecule that contains the chemical instructions for cells to manufacture

various proteins.
Chromosome

a molecule of DNA that contains the instructions to make proteins

Humans have 46 chromosomes (23 pairs), and about 25,000 genes.

Genome

the code for making a human being

Every person has a slightly different code, but the human genome is 99.5% the
same for any 2 people.

What Genes Are

Genes are as section of chromosomes and the
basic unit for the transmission of heredity,
consisting of a string of chemicals that code for
the manufacture of certain proteins.

The Beginnings of Life

development begins at conceptioneach human
reproductive cell or gamete, contains 23
chromosomes, half of that persons 46
gamete
A reproductive cell; that is, a sperm or ovum that
can produce a new individual if it combines with a
gamete from the other sex to make a zygote

The Beginnings of Life

Matching Genes
conception occurs in the usual way
zygote
the single cell formed from the fusing of two gametes, a sperm and an
ovum

genotype
An organisms entire genetic inheritance, or genetic potential

The Beginnings of Life

Male or Female?

From One Cell to Many

phenotype
the observable characteristic of a person, including
appearance, personality, intelligence, and all other traits

From One Cell to Many

New Cells, New Functions
Gene-Gene Interactions
occurs through cell differentiation, gene-gene (polygenic), and gene-environment
interaction

Multifactorial
refers to a trait that is affected by many factors, both genetic and environmental

The Human Genome Project is an international effort to map the entire

human genome
researchers have found that humans have only about 25,000 genes, 99% of which
are present in the genomes of other creatures as well

From One Cell to Many

Additive Heredity
an allele is a slight, normal variation of a particular
gene

some alleles are

additive genes combine to make a phenotype

10

From One Cell to Many

Dominant-Recessive Heredity
the interaction of a pair of alleles in such a way that the
phenotype reveals the influence of one allele (the dominant
gene) more than that of the other (the recessive gene)
a special case of the dominant-recessive pattern occurs with
genes that are x-linked, located on the x chromosome

11

From One Cell to Many

More Complications
A small alteration in the sequence of base pairs or
several extra repetitions in one triplet ma be
inconsequential or may cascade to create a major
problem

12

From One Cell to Many

Twins, Clones, Assisted Reproduction (ART)
dizygotic (fraternal) twins

result from two sperm penetrating two ova, and share 50% of their genes

monozygotic (identical) twins

originate from one zygote, and share 100% genes

a clone

originates from a live organism

ART

general term for the technique designed to help infertile couples conceive and then
sustain a pregnancy

13

From One Cell to Many

Assisted Reproduction (ART)
general term for the technique designed to help infertile
couples conceive and then sustain a pregnancy

14

From Genotype to Phenotype

Scientist in many nations have studied thousands of twins,
both monozygotic and dizygotic, raised together in the same
home and raised separately in different homes

15

From Genotype to Phenotype

Genes affect every aspect of human behavior,
including social and cognitive behavior
Most environmental influences on children raised in
the same home are not shared

16

From Genotype to Phenotype

Each childs genes elicit other peoples responses, and
these responses shape development. In other words, a
childs environment is partly the result of his or her
genes.
Children, adolescents, and especially adults choose
environments that are compatible with their genes (called
niche-picking), and thus genetic influences in adulthood

17

From Genotype to Phenotype

Carrier
a person whose genotype includes a gene that is not expressed
in the phenotypesuch an unexpressed gene occurs in half of
the carriers gametes and thus is passed on to half of the
carriers children, who will most likely be carriers, too
Generally, only when the gene is inherited from both parents
does the characteristic appear in the phenotype.

18

From Genotype to Phenotype

Addiction
inherited biochemistry making people vulnerable to
various addition
any one can abuse drugs or alcoholbut genes create
an addictive pull that can be overpowering, extremely
weak, or somewhere in between

19

From Genotype to Phenotype

Visual Acuity
New borns cannot focus more than 2 feet away
Children see better each year until about age 8
Many adolescents become nearsighted when eyeball shape
changes
Vision is more likely to improve than to worsen until age 40

20

From Genotype to Phenotype

Visual Acuity
In middle age, the elasticity of the lens decrease and the
eyeball shape change again, so that many people become
farsighted and need reading glasses
Among the old, eye diseases, including cataracts, are
common
About 10 percent of people over age 90 are blind

21

From Genotype to Phenotype

Nearsightedness and Genes
If children have a vision problem it is most often myopia
(nearsightedness)
Nearsightedness is a symptom in more than 150 genetic
syndromes
Caused by physical trauma or illness, such as the rubella virus,
or poor nutrition (such as vitamin A deficiency
These factors cause high nearsightedness, so severe that it can
lead to blindness

22

From Genotype to Phenotype

Culture and Cohort
genes are not the major cause of poor vision
historical and multicultural research finds that environment
also influences nearsightedness
if diet is deficient of vitamin A

23

From Genotype to Phenotype

Practical Application
developmental application of nature-nurture interaction
family history of genetic problems
someone inherited a problem
alcoholism in the genes
lack of outdoor play

24

From Genotype to Phenotype

Practical Application
type 2 diabetes (adult-onset diabetes)
a chronic disease which the body does not produce enough
insulin to adequately metabolize carbohydrate (glucose) it
typically developed in people aged 50 - 60today it often
appears in younger people

begins when a person is vulnerable and has more body

fat than is ideal

25

From Genotype to Phenotype

26

Chromosomal and Genetic Abnormalities

abnormalities caused by identifiable problemsthose with an extra
chromosome or a single gene
study of these problems is relevant to the study of development
providing insight into the complexities of nature and nurture
knowing their origins helps limit these effects
information combats the prejudice that surrounds such problems

27

Chromosomal and Genetic Abnormalities

Not Exactly 46 Chromosomes
a variable that most often correlates with chromosomal
abnormalities is the age of the mother
occur not only in the formation of gametes but also in their early
duplication
mosaic is having a condition (mosaicism) that involves having a
mixture of cells, some normal and some with an odd number of
chromosomes or a sense of missing genes

28

Chromosomal and Genetic Abnormalities

Down Syndrome
a condition in which a person has 47 chromosomes instead
of the usual 46, with three rather than two chromosomes at
the 21st position
people with Down Syndrome typically have distinctive
characteristics, including unusual facial features, heart
abnormities, and language difficulties

29

Chromosomal and Genetic Abnormalities

Abnormalities of the 23rd Pair
humans have at least 44 autosomes and one X
chromosome
an embryo cannot develop without an X chromosome
an odd number of X chromosomes impairs cognition and
psychosocial development and sexual maturation
if a child has three sex chromosomes instead of two he/she may
seem normal until puberty

30

Chromosomal and Genetic Abnormalities

Dominant-Gene Disorders
everyone carries genes or alleles that could produce serous
diseases or handicaps in the next generation
7,000 single-gene disorders
their dominant effects are apparent in the phenotype

31

Chromosomal and Genetic Abnormalities

Fragile X Syndrome
a genetic disorder in which part of the X chromosome
seems to be attached to the rest of it by a very thin string
of molecules
the actual cause is too many repetitions of a particular part
of a genes code

32

Chromosomal and Genetic Abnormalities

Recessive-Gene Disorder
most recessive disorders are not X-linked
double recessive patterns are lethalone recessive gene is
protective
sometimes a person who carried a lethal gene has many
descendants who marry each other the genetic disease
then becomes common in that group

33

Chromosomal and Genetic Abnormalities

Genetic Counseling and Testing
consultation and testing by trained experts that enable
individuals to learn about their genetic heritage, including
harmful conditions that they might pass along to any
children they may conceive

34

Chromosomal and Genetic Abnormalities

Who Should Get Counseling, and When?
genetic counseling
consultation and testing by trained experts that enable individuals
to learn about their genetic heritage, including harmful conditions
that they might pass along to any children they may conceive

35

Chromosomal and Genetic Abnormalities

Is knowledge Always Power?
Genetic counselors, scientist, and the general public usually
favor testing
having some information is better than having none

high risk individuals (who might hear bad news) do not

always want to know
the truth might jeopardize their marriage, their insurance coverage,
or their chance of parenthood

36

Chromosomal and Genetic Abnormalities

Coping with Uncertainty
much is uncertain in genetic testing and counseling
those who learn that they have a harmful dominant gene
have new information, as well as new uncertainties
interaction of genes and the environment makes
development overt the life span unpredictable, even if the
genes are known

37