Forming a New Life
Chapter 3
Genetic Testing and Engineering
• Genomics—the study of functions and
interactions of various genes
• Genetic testing: Should children be
tested?
• Would you want to know if you were
predisposed for a particular disease?
• Are there potential ethical and moral issues
with genetic testing?
Guideposts for Study
§ How does conception normally occur, and what
causes multiple births?
§ How does heredity operate in determining sex
and transmitting normal and abnormal traits?
§ How do scientists study the relative influences of
heredity and environment, and how do heredity
and environment work together?
§ What roles do heredity and environment play in
physical health, intelligence, and personality?
Guideposts for Study
§ What are the three stages of prenatal
development, and what happens during
each stage?
§ What environmental influences can
affect prenatal development?
§ What techniques can assess a fetus’s
health, and why is prenatal care
important?
Conceiving New Life
§ Fertilization
ú Union of sperm and ovum to produce a
single-celled zygote
ú Also called conception
Two Types of Multiple Births
§ Monozygotic (MZ)
ú One egg – One sperm
ú Identical twins
ú Share 100% of genes
§ Dizygotic (DZ)
ú Two eggs – Two sperm
ú More common
ú Fraternal twins
ú Share 50% of genes – just like non-twin siblings
Rise in Multiple Birth Rate
§ Factors
ú Rising trend toward delaying childbirth
ú Increasing use of fertility drugs
§ Related Risks
ú Pregnancy complications
ú Premature delivery and lower birth weight
ú Infant disability or death
Fetal Development
9 months in the womb
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Mechanisms of Heredity: DNA
Determination of Sex
Sex Determination
§ Chromosomes: Coils of DNA carrying
genes
ú Autosomes:
ú 22 pairs not related to sexual expression
ú Sex chromosomes:
ú 1 pair determining sex
ú XX = female
ú XY = male
Dominant and
Recessive Inheritance
§ Dominant
ú Heterozygosity, with a dominant allele
§ Recessive
ú Homozygosity, with no dominant allele
Trait Inheritance
§ Alleles
ú Homozygous: Identical copies of gene
ú Heterozygous: Different copies of gene
§ Polygenic inheritance
ú Interaction of several genes for a trait
ú Most traits
Dominant-Recessive Inheritance:
Tongue Curling Example
I
Gene Expression
§ Genotype
§ Actual genetic makeup or allele combinations
§ Tongue curling ability: DD or Dd
§ Phenotype
§ Observable expression of genetic makeup
§ Product of the genotype
§ Multifactorial transmission
§ Experience modifies the expression of a genotype
Epigenesis
§ Epigenetic framework or chemical molecules
that alter the way a cell “reads” the gene’s
DNA
§ Epigenetic markers may contribute to cancer,
diabetes or heart disease
§ Epigenetic markers may change due to
environment factors
§ Imprinting
Inherited Defects
§ Dominant abnormal gene
§ Recessive abnormal gene
§ Incomplete: Partial dominance
§ Trait is not fully expressed
§ Sickle-cell anemia: Only some parts of
the disease are expressed
Sex-Linked Inheritance
Sex-Linked Defects
§ Disorders linked to genes on sex
chromosomes
§ Red/green color blindness, hemophilia
§ Affects males and females differently
§ Carrier
§ Individual unaffected by disorder but
passes on gene to offspring
Chromosomal Abnormalities
§ Errors in cell division
§ Result in missing or extra
chromosomes
§ Can occur in sex chromosomes
or autosomes
Down Syndrome
§ Trisomy 21 – an extra 21st
chromosome
§ Most common autosomal disorder
§ Responsible for 40% of moderate to
severe mental retardation
Genetic Counseling
§ Helps prospective parents assess risk of
bearing a child with a genetic defect
§ Karyotype chart shows chromosomal
abnormalities
§ Especially helpful when:
ú Already have biological children with defect
ú Family history
ú Ethnicity
Behavioral Genetics
§ How does heredity and
environment influence traits?
§ Heritability:
§ Statistical estimate of heritable
influence on trait variance in a
population
§ Nature vs nurture:
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Measuring Heritability
§ Family Studies
§ The degree to which bio-relatives share traits
§ Adoption Studies
§ The degree to which adopted children resemble
biological relatives or adopted family members
§ Twin Studies
§ Concordance: The degree to which MZ and DZ
twins resemble each other for a trait
Heredity & Environment:
Working Together
§ Reaction Range: Potential variation
in a trait
§ Canalization: Heritable restrictions
on the range of trait development
Intelligence and Reaction Range
Genotype-Environment (G x E)
Correlations
§ Environment reflects or reinforces genetic
differences
ú Passive: Parents provide environment that
fosters trait
ú Reactive or evocative: Based on their traits,
children evoke different responses from others
ú Active or niche picking: choosing an
environment that suits your traits
Nonshared Environment
§ Development reflects unique
environment in which each
child grows up
ú Accidents
ú Illnesses
ú Unique interactions with
friends or peers
Traits Influenced by
Heredity & Environment
§ Obesity
§ Intelligence, school achievement
§ Personality
§ Schizophrenia
Stages of Prenatal Development
Stage Duration
Germinal Conception to 2 weeks
Embryonic 2 to 8 weeks
Fetal 8 weeks to birth
Germinal Stage Development
Embryonic Stage Characteristics
§ Organs and major body systems
develop rapidly
ú Respiratory
ú Digestive
ú Nervous
§ Risk of spontaneous abortion, or
miscarriage
Development During Fetal Stage
§ Organs and body become more
complex
§ “Finishing Touches” – toenails,
eyelids
§ Appearance of bone
Maternal Factors
§ Teratogenic: birth defect producing
§ Nutrition and maternal weight
§ Drug and alcohol intake
§ Nicotine
§ Caffeine
§ Maternal illnesses
§ Sexually transmitted diseases (HIV/AIDS)
§ Maternal age and stress
§ Outside environmental hazards
Paternal Factors
§ May affect quality of sperm:
ú Exposure to lead
ú Marijuana or tobacco smoke
ú Alcohol or radiation
ú Pesticides
ú Paternal age
Monitoring Prenatal Development
§ Ultrasound and amniocentesis
§ Chorionic villus sampling CVS)
§ Embryoscopy
§ Maternal blood test
Prenatal Care
§ Includes:
ú Education
ú Social services
ú Nutritional services
< Helps protect the life and health of the
infant and mother
§ Not evenly distributed among SES, ethnic
groups
Preconception care
§ CDC recommendations include:
§ Physical examinations
§ Vaccinations
§ Risk screening
§ Counseling
