The Influence of Heredity

on Development
 Heredity and Genetics

• Heredity
– One’s nature based on biological transmission of traits and
characteristics

• Genetics
– Field within the science of biology that studies heredity

• Genetics Influence our

– Physical traits
– Behavioral traits
– Psychological problems
 What Are Chromosomes and Genes?

• Chromosomes
– Found in cells
– 23 pairs

• Genes
– Segments of DNA within chromosomes
– Regulate development of traits
• Transmitted by single gene or may be polygenic
– 20,000 to 25,000 genes in every cell
 Double Helix of DNA

Figure 2.1
 Two Types of Cell Division

• Mitosis
– Cell division by which growth occurs

– Strands of DNA break apart, duplicate and are rebuilt

– Result is identical copies of DNA strand

• Mutations can develop throughout our lives

 Two Types of Cell Division

• Meiosis
– Cell division by which sperm and ova are produced

– 23 chromosome pairs divide

– Result is a new cell with only 23 chromosomes

• 22 pairs are autosomes
• 23rd pair are sex chromosomes
 Two Types of Cell Division

• Meiosis
– Crossing Over
 The 23 Pairs of Human Chromosomes

Figure 2.3
 How Are Twins Formed?
• Monozygotic Twins (MZ)
– Derived from a single zygote that has split in two
– Identical twins

• Dizygotic Twins (DZ)

– Derived from two zygotes

• Probability of twins increases

– Maternal age
– Use of fertility drugs
 How Do Genes Determine Traits?

• Traits are determined by pairs of genes

– Each member of pair is an allele

• Homozygous
– Both alleles for a trait are the same

• Heterozygous
– Alleles for a trait are different
 Mendel’s Laws of Heredity

• Averaging
– Effects of both alleles are shown

• Law of Dominance
– Dominant allele paired with recessive allele
• Dominant allele appears in offspring
Transmission of Dominant and Recessive Traits

Figure 2.4
Transmission of Dominant and Recessive Traits
 Dominant and Recessive Traits

• Carriers
– Person who has one dominant and one recessive gene

• Chromosomal or genetic abnormalities

– Occur in autosomes or sex chromosomes
– May be caused by a single gene or combinations
 Chromosomal Abnormalities: Down Syndrome

• Cause: extra chromosome on 21st pair

• Probability increases with increased age of parent

• Characteristics of children
– Facial features
– Cognitive and physical deficiencies
 Down Syndrome

Figure 2.5
 Chromosomal Abnormalities: Sex-Linked

• Most are infertile

• Male with extra sex chromosome

– XYY - extra Y chromosome
– XXY - Klinefelter syndrome

• Female with abnormal number of sex chromosomes

– X (X0) - Turner syndrome
– XXX - Triple X syndrome
 Genetic Abnormalities

• Recessive gene abnormalities

– Phenylketonuria (PKU)
– Sickle-Cell Anemia
– Tay-Sachs disease
– Cystic Fibrosis

• Dominant gene abnormalities

– Huntington disease
 Sex-Linked Genetic Abnormalities

• Hemophilia

• Duchenne muscular dystrophy

• Color-Blindness
 What Is the Difference Between Our Genotypes
and Our Phenotypes?

• Reaction range
– Range of possibilities for the expression of the trait

• Genotypes
– Set of traits inherited from parents

• Phenotypes
– Actual set of traits — product of genes and environment
 What Is the Difference Between Our Genotypes
and Our Phenotypes?

• Canalization
– Environmental influences on genotype within reaction range

– Canalization = invariant
• Infant motor development
– Less canalization
• Intelligence
• Personality
 Genetic – Environmental Correlation (Interaction)

• Passive Correlation (Interaction)

– Environment that child is placed into (by parents)

• Evocative Correlation (Interaction)

– Child’s genotype elicits responses

• Active Correlation (Interaction)

– Environment child chooses
 Genetic Counseling and Prenatal Testing

• Genetic Counseling
– Addresses probability of genetic abnormalities

• Various Biological/Physical Tests combined with Family

History are used to evaluated risks
 Prenatal Testing

• Blood Tests
– Alpha-Fetoprotein
(AFP) assay
• Ultrasound
– Sonogram “picture” of
fetus
– Beneficial in
determining position of
fetus and physical
characteristics
 Prenatal Testing

• Amniocentesis
– Routine among
American women
over age 35
– Used to detect over
100 chromosomal
and genetic
abnormalities
– Indicates the sex of
the baby
– Some risk of
miscarriage
 Prenatal Testing

• Chorionic Villus Sampling (CVS)

– Can diagnosis abnormalities earlier
than amniocentesis
– Slightly greater risk of spontaneous
abortion
Conception

Against All Odds

 Conception

• Ova
– Begin to mature at puberty
– Monthly release of mature egg into Fallopian tube
– Egg is propelled by cilia
– If not fertilized, egg is discharged in the menstrual flow
 Female Reproductive Organs

Figure 2.8
 Conception

• Sperm
– Self propelled and smaller than ova
– Sperm with “Y” chromosome swim faster than sperm with “X”
chromosome
– From 200 to 400 million in ejaculate; only 1 in 1,000 arrive in
vicinity of ovum
– Sperm are attracted by chemical odor secreted by ova
Figure 2.9
 What Process Brings Together
the Genes from Each Parent?

• Only one sperm enters the zona pellucida

– Sperm secrete enzyme hyaluronidase to allow penetration of
the zona pellucida

– When one sperm enters, the zona pellucida thickens, locking

out other sperm

• Chromosomes from sperm and egg combine to form 23 new

pairs
 Fertilization

1 5 14 28

• Egg is viable for

24 hours
• Sperm is viable for
3 to 5 days
•Safe period is from
day 9 to 15 if ovulation occurs on day 14
 Infertility and Other Ways of Becoming Parents
What Are the Causes of Infertility?

• Fertility problems among men

– Low sperm count
– Deformed sperm
– Low sperm motility
– Diseases
– Direct trauma to testes
– Autoimmune responses
• Causes
– Genetic factors, environmental poisons, diabetes, STI’s,
overheating testes, pressure to testes, aging and effects of
drugs
 Infertility and Other Ways of Becoming Parents
What Are the Causes of Infertility?

• Major fertility problems among women

– Irregular or failure to ovulate
• Fertility drugs are used to cause women to ovulate
– Declining hormone levels due to aging
– Infections
• Pelvic inflammatory disease (PID)
– Endometriosis
• Obstruct fallopian tubes
– Barriers or disorders in passageways (i.e. Fallopian tubes)
 Infertility and Other Ways of Becoming Parents
How Are Couples Helped to Have Children?

• Artificial Insemination
– Sperm injected into mother’s uterus
• In Vitro Fertilization
– Ova and sperm are fertilized, then implanted in mother’s uterus
• Donor IVF
– Ovum harvested from donor woman; fertilized in vitro and
implanted in recipient’s uterus
– Embryonic transplant
 Infertility and Other Ways of Becoming Parents

• Surrogate Mothers
– Surrogate “substitutes” bring babies to term for another woman
• Adoption
– Greater diversity of adopted children and adoptive parents
– Consideration of adopted children needs