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?
• What are three stages of prenatal development, and what happen
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
 Union of sperm and ovum to produce a
single-celled zygote
 Also called conception
 Two Types of Multiple Births

• Monozygotic (MZ)
 One egg – One sperm
 Identical Twins
 Share 100% of genes
• Dizygotic (DZ)
 Two eggs – Two sperm
 More common
 Fraternal Twins
 Share 50% of genes – just like non-twin siblings
 Rise in Multiple Birth Rate

• Factors
 Rising trend toward delaying childbirth
 Increasing use of fertility drugs
• Related Risks
 Pregnancy complications
 Premature delivery and lower birth weight
 Infant disability or death
Mechanisms of Heredity: DNA
Determination of Sex
 Sex Determination

• Chromosomes: Coils of DNA carrying genes

 Autosomes:
 22 pairs not related to sexual expression
 Sex chromosomes:
 1 pair determining sex
 XX = female
 XY = male
 Dominant and
Recessive Inheritance

• Dominant
 Heterozygosity, with a dominant allele (XX or Xx)
• Recessive
 Homozygosity, with no dominant allele (xx)
 Trait Inheritance
• Alleles
 Homozygous: Identical copies
of gene (XX or xx)
 Heterozygous: Different copies
of gene (Xx)
• Polygenic Inheritance
 Interaction of several genes for
a trait
 Most traits (e.g. intelligence
influenced by > 50 genes)
 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 make-up
– Product of the genotype
• Multifactorial transmission
– Experience modifies the expression of a genotype
 Epigenesis

• Epigenetic framework or chemical molecules

which 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: differential expression of genetic
characteristics
 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 colorblindness, 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:
 Already have biological children with defect
 Family history
 Ethnicity
 Behavioral Genetics
• How does heredity and
environment influence traits?
• Heritability:
– Statistical estimate of heritable
influence on trait variance in a
population
 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
(illustrated by a blueprint)
Intelligence and Reaction Range
Genotype-Environment (G x E) Correlations

• Environment reflects or reinforces genetic

differences
 Passive: Parents provide environment that fosters
trait
 Reactive or Evocative: Based on their traits,
children evoke different responses from others
 Active or Niche Picking: choosing an environment
that suits your traits
 Nonshared Environment
• Development reflects unique
environment in which each
child grows up
 Accidents
 Illnesses
 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
 Respiratory
 Digestive
 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
• Drugs & 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:
 Exposure to lead
 Marijuana or tobacco smoke
 Alcohol or radiation
 Pesticides
 Paternal age
Monitoring Prenatal Development
• Ultrasound and Amniocentesis
• Chorionic villus sampling CVS)
• Embryoscopy
• Maternal blood test
 Prenatal Care

• Includes:
 Education
 Social services
 Nutritional services
 Helps protect the life and health of the infant
and mother
• Not evenly distributed among SES, ethnic
groups
 Prenatal Care

Figure 3-11
 Preconception care
• CDC (Center of Disease Control and
Prevention) recommendations include:
– Physical examinations
– Vaccinations
– Risk screening
– Counseling