Invitation to the Life Span

by Kathleen Stassen Berger

Chapter 2 Genes and Prenatal Development

PowerPoint Slides developed by Martin Wolfger and Michael James Ivy Tech Community College-Bloomington

The Beginning of Life

DNA (deoxyribonucleic acid):
Molecule that contains the chemical instructions for cells to manufacture various proteins Promotes growth and sustains life

Chromosomes:
Molecules of DNA DNA consists of 46 chromosomes arranged in 23 pairs

The Beginning of Life

Gametes:
Reproductive cells (sperm and ova) Each gamete consists of 23 chromosomes.

Zygote:
Two gametes (sperm and ovum) combine and produce a new individual with 23 chromosomes from each parent.

Genes:
Specific sections of a chromosome that carry instructions via four chemicals. Chemicals are organized in four pairs (AT, TA, CG, GC). Each person has about 3 billion pairs.

The Beginning of Life

Genetic Variations and Similarities

Genes are passed down from generation to generation Genotype:
An organisms genetic inheritance, or genetic potential Unique for each organism

Phenotype:
The observable characteristics of an organism, including appearance, personality, intelligence, and all other traits.

Genetic Variations and Similarities

Many genes are identical for every human being. Some genes vary slightly in their codes from one person to another. Allele:
Variation of a gene or any of the possible forms in which a gene for a particular trait can occur. Effects of variations vary greatly from causing lifethreatening conditions to having no detectable effect at all.

The Human Genome

Genetic Diversity
Distinguishes each person Allows the human species to adapt to pressures of the environment (e.g. climate changes, illnesses).

Genome:
The full set of genes that are the instructions to make an individual member of a certain species Similarity between two people: 99.5% Similarity between humans and chimpanzees: 98% Similarity between humans and every other mammal: 90+%

Human Genome Project and HapMap

Human Genome Project:
Found only about 20,000 genes in humans Exact number is unknown

HapMap:
International project trying to spot all variations in the human genome Found 11 million variations among the 3 billion chemical pairs

Siblings and Twins

Sibling Similarities

Each sibling gets abut 10,000 genes from each parent. Millions of variations and billions of combinations are possible. Full siblings are not necessarily alike.
Originate from one zygote that splits apart very early in development. Incomplete split results in conjoined twins. Same genotype but slight variations in phenotype are possible due to environmental influences.

Monozygotic (identical) twins:

Siblings and Twins

Dizygotic (fraternal) twins
Result from fertilization of two separate ova by two separate sperm. Dizygotic twins have half their genes in common and occur twice as often as monozygotic twins. Incidence is genetic and varies by ethnicity and age.

Male and Female

Humans usually possess 46 chromosomes.
44 autosomes and 2 sex chromosomes Females: XX Males: XY Sex of offspring depends on whether the fathers Y sperm or X sperm fertilizes the ovum.

Male and Female

Genetic Interactions
Almost every trait is:
polygenic (affected by many genes) multifactorial (influenced by many factors)

Regulator genes
Direct the interactions of other genes, controlling their genetic expression, duplication, and transcription Responsible for differences between species

Additive Heredity
Additive genes
Genes that add something to some aspect of the phenotype Effects of additive genes add up to make the phenotype Example: Height is affected by the contributions of about 100 genes

Dominant-Recessive Heredity
Dominant gene is far more influential than the recessive gene (non-additive). Dominant gene can completely control the phenotype with no noticeable effect of recessive gene.
Genes for blood type B and Rh-positive blood are dominant.

Effect of recessive genes can sometimes be noticed.

Dominant brown eye gene and recessive blue eye gene can result in hazel eyes.

Carrier
A person whose genotype includes a gene that is not expressed in the phenotype
Unexpressed gene occurs in half of the carriers gametes and is passed on to half of the carriers offspring Offspring can be carrier or express the gene in the phenotype (e.g. when unexpressed gene is inherited by both parents)

Heritability
Statistical term that indicates what portion of the variation in a particular trait within a particular population is inherited.
Example: 90% of the height differences among children of the same age is genetic.

Environment can affect the expression of inherited genes.

Genetic Problems
a) Chromosomal Abnormalities
Down Syndrome (Trisomy-21)
Three copies of chromosome 21 Specific facial characteristics (thick tongue, round face, slanted eyes) Hearing losses, heart abnormalities, muscle weakness, short stature Slow to develop language Accelerated aging (cataracts, dementia, certain forms of cancer common at age 40)

Genetic Problems
b) Abnormalities of the Sex Chromosomes
Turner Syndrome (X only):
Unusually short, underdeveloped female organs, infertile Slow to develop Problems in spatial understanding Symptoms include learning problems and infertility Boys penis does not grow during puberty and fat accumulates around the breast area Sometimes not recognized until adulthood

Klinefelter Syndrome (XXY):

Genetic Problems

a)

Gene Disorders
Dominant Disorders Half of the offspring of parents with a dominant disorder will have the disorder. Most dominant disorders begin in adulthood (fatal dominant childhood conditions cannot be passed on). Many dominant disorders have relatively mild or variable symptoms. Tourette syndrome
Some who inherit the dominant gene exhibit uncontrollable tics and explosive outbursts Most have milder, barely noticeable symptoms

Genetic Problems
b) Recessive Disorders
Millions of different types, lethal conditions are rare Sickle-cell trait
Offers some protection against malaria African carriers are more likely than non-carriers to survive More common among people with northern European ancestors Carriers may have been protected against cholera

Cystic fibrosis

Genetic Problems

Sex-Linked Conditions
All X-linked conditions are more common in boys; girls are likely to be protected by their second X
Fragile X Syndrome
Most common form of inherited mental retardation Additional symptoms include muscle weakness, shyness, and poor social skills

Hemophilia
Blood clotting is inhibited Blood transfusions can save childrens lives

Color blindness
Most common sex-linked condition Often passed on because it is not debilitating

Sex-Linked Conditions

Advising Prospective Parents

Genetic Counseling
Consultation and testing by trained professionals Enables prospective parents to learn about their genetic heritage, including harmful conditions that may be passed on to their offspring

Ethical Guidelines
Test results are kept confidential Decisions regarding sterilization, adoption, abortion, or carrying a pregnancy to term are made by the clients

Advising Prospective Parents

Presenting the Facts

Potential genetic counseling issues
Prospective parents must base some decisions on odds Tests often reveal that more tests are needed False positives and false negatives True positives may cause additional stress

PKU: A Success Story

Phenylketonuria (PKU)
Recessive condition Results in inability to metabolize phenylalanine (amino acid found in many foods) Buildup of phenylalanine causes brain damage, progressive mental retardation, and other symptoms Early testing and a special diet usually results in normal development

From Zygote to Newborn

Three main periods of prenatal development
1. Germinal Period (first two weeks after conception): rapid cell division and beginning of cell differentiation 2. Embryonic Period (3rd through 8th week): basic forms of all body structures develop 3. Fetal Period (9th week until birth): fetus grows in size and matures in functioning

The Germinal Period

Zygote begins duplication and division within hours of conception Development of the placenta
Organ that surrounds the developing embryo and is attached to the wall of the uterus Sustains life via the umbilical chord (nourishes organism and carries waste products away)

Implantation (about 10 days after conception)

Developing organism burrows into the placenta that lines the uterus

Organism grows rapidly

Pregnancy can be detected due to new chemicals in the mothers urine

The Germinal Period

The Germinal Period

The Embryonic Period

Embryo
Developing human organism from about the 3rd through the 8th week after conception Begins when the primitive streak appears down the middle of the cell mass Primitive streak becomes the neural tube and later forms the brain and spine of the CNS Head takes shape Eyes, ears, nose, and mouth form Heart begins to pulsate Extremities develop and webbed fingers and toes separate

The Embryonic Period

The Fetal Period

Fetus
Developing human organism from the start of the 9th week after conception until birth Genitals form and sex hormones cause differences in fetal brain organization Cephalocaudal and proximodistal growth Heartbeat detectable via stethoscope All body parts and systems complete prenatal development Cortex is not fully mature at birth (e.g. prefrontal lobes) Brain at birth is far bigger than any other part of the baby

The Fetal Period

Age of viability
Age at which a preterm newborn may survive outside the mothers uterus if medical care is available About 22 weeks after conception Brain is able to regulate basic body functions (e.g. breathing) Chances of survival increase with each day after the 22week mark

The Fetal Period

Birth
Fetal brain signals the release of hormones to trigger the females uterine muscles Labor begins
Average duration for firstborn babies: 12 hours Quicker labor for later-born babies

Apgar scale
Quick assessment of newborns heart rate, breathing, muscle tone, color, and reflexes Completed twice (1 minute and 5 minutes after birth) Score of 0, 1, or 2 in each category Desired score: 7 or above

Birth

Traditional and Modern Birthing Practices

Home births Hospital births Doula
Woman who helps with labor, delivery, breastfeeding, and newborn care May be related to lower rate of cesarean sections

Cesarean Section (C-Section)

Surgical birth Fetus can be removed quickly Rates and reasons for c-sections vary greatly
Lower rates in poorer countries (emergencies) Higher rates in richer countries (planned for the convenience of mother and/or obstetrician) 1/3 of births in the United States

Less trauma for the newborn but slower recovery for the mother Subsequent cesarean deliveries may be necessary

Medical Intervention
Infant mortality has decreased due to better medical care
1900: 5% Today: <1 in 200

Childbirth has become safer for mothers

Death rate in poorest nations: 1 in 20 women

Excessive medical care also has disadvantages

Increase in unnecessary c-sections is associated with higher rate of low-birth weight babies

Low Birthweight
Low birthweight (LBW)
Less than 2,500 grams (5 pounds) at birth United States
Steady increase in LBW over the past 25 years 8% of newborns are seriously underweight More susceptible to teratogens, higher birth risks, lower survival rate

Very low birthweight (VLBW)

Under 1,500 grams (3 pounds, 5 ounces) at birth

Extremely low birthweight

Under 1,000 grams (2 pounds, 3 ounces) at birth

Preterm or Slow Growing?

Preterm
Birth that occurs at 35 or fewer weeks after conception Usually associated with low birthweight

Small for gestational age (SGA)

Birthweight is significantly lower than expected, given the time since conception Suggests impairment throughout prenatal development and serious problems

Causes of Low Birthweight

Genetic factors Maternal illness Exhaustion Infection Malnutrition Drug use Multiple births

Mothers, Fathers, and a Good Start

The Fathers Role
Supportive father helps mother stay healthy Father can decrease or increase mothers stress (affects fetus) Most fathers are helpful to their pregnant wives Two way street: Pregnant mothers should support, involve, and encourage fathers

The Importance of Close Contact

Birth complications can have lingering impact on later life Mothers and fathers should help with early caregiving if newborn must stay in the hospital Kangaroo care
Child-care technique in which the mother of a lowbirthweight infant holds the baby between her breasts Allows baby to hear mothers heartbeat and feel her body heat Research confirms beneficial effects

Postpartum Depression
Sadness and inadequacy felt by 8-15% of new mothers in the days and weeks after giving birth Symptoms range from baby blues to postpartum psychosis Depressed mothers find baby care burdensome and may think about mistreating the infant Paternal involvement can have beneficial effect
Some fathers are depressed themselves

Causes for Postpartum Depression vary

Bonding
Parent-Infant Bond
The strong, loving connection that forms as parents hold, examine, and feed the newborn Early skin-to-skin contact is not essential Cross-fostering in monkeys
Newborns are removed from their mothers and raised by another female or male Strong and beneficial relationship sometimes develops

Nature, Nurture, and the Phenotype

Four general research conclusions
1. 2. Genes affect every aspect of human behavior Nongenetic influences begin at conception and continue lifelong, sometimes altering genetic instructions Most environmental influences on children raised in the same home are NOT shared, partly because parents treat each child differently Children , adolescents, and adults niche-pick, choosing environments that are compatible with their genetic inheritance

3.

4.

Nearsightedness or Myopia
High (more severe) and low (less severe) nearsightedness Low nearsightedness runs in families and is associated with minor variations in the Pax6 gene Environment also plays a role
Increase in nearsightedness among East Asian schoolchildren Increased schoolwork may have caused nearsightedness in children with a Pax6 allelle

Alcoholism
Alcoholism probably has a genetic basis
Genes can cause an overpowering addictive pull in some people Environmental conditions can modify the genetic effects Nature and nurture must combine to create an alcoholic

Fetal Alcohol Syndrome (FAS)

A cluster of birth defects that may occur in the child of a woman who drinks alcohol while pregnant Includes abnormal facial characteristics, slow physical growth, and retarded mental development

Prenatal Teratogens
Substances and conditions that can impair prenatal development and result in birth defects or even death Not all teratogens can be avoided Structural abnormalities are obvious at birth Behavioral teratogens
Affect the childs developing brain Can cause developmental retardation, hyperactivity, and learning disabilities Effects do not become evident for months or years

Significant Factors
1. Genetic Vulnerability

Some zygotes carry genes that make them vulnerable

Certain genes increase likelihood of cleft lip in Japanese people

Some women do not metabolize folic acid well

Increases rates of neural-tube defects (e.g. spina bifida) Folic acid was added to many foods in the United States and Canada and rates have decreased

Significant Factors
2. Timing of Exposure
Critical period: time when a body part develops First two months for structural abnormalities Often before woman knows she is pregnant Time when most spontaneous abortions occur Sensitive period: time when teratogens can interfere with recent growth

Significant Factors
3. Amount of Exposure

Threshold effect: Certain teratogens are relatively harmless until exposure reaches a certain level Bisphenol A (BPA)
Chemical compound used to make clear plastic Small doses are harmless but threshold for humans is unknown Pregnant mothers should avoid plastic containers and dishware

Prescription drugs Vitamin A

High doses can be harmful

Resolving Uncertainties
Pregnancy does not have to be an anxious time Good prenatal care can
teach women what they can do to have healthy babies save lives reassure parents that all is well