Chapter3

Forming a New Life

Fertilization (conception)- the process by which sperm and ovum combine to create a single cell called
zygote, which then duplicates itself again and again by cell division to produce all the cells that make up
a baby

 Ovum (egg cell)- Female gametes

 Sperm Cell- Male gametes
What causes multiple births?
 Multiple births run in the family. Usually, the mother passes it to her daughter.
o Dizygotic twins (fraternal twins)- Twins conceived by the union of two different ova (or
a single ova that has split) with two different sperm cells; they are no more alike
genetically than any other siblings
 Highly common than monozygotic twins
 Example: The twins of Carmina and
o Monozygotic twins (identical twins)- Twins resulting from the division of a single zygote
after fertilization.
 Has higher mortality rate because of the uneven distribution of nutrients
shared by the twins in one placenta.
 Factors affecting multiple births
1. The trend toward delayed child-bearing.
2. The increased in fertility drugs, which spur ovulation.
3. Assisted reproductive techniques such as in-vitro fertilization which tends to run in
families.

Mechanisms of Heredity

The Genetic Code

o DNA (Deoxyribonucleic acid)
 The stuff of heredity. It’s double helix structure resembles a long spiralling ladder
whose steps are made of pairs of chemical units called bases:
 Adenine
 Thiamine
 Cytosine
 Guanine
o Chromosomes
 Coils of DNA. Consists of smaller segments called genes.
 Genes: Small segments of DNA located in the definite positions on particular
chromosomes; functional units of heredity
  Genetic Code: Sequence of bases within the DNA molecule; governs the formation
of proteins that determine the structure and functions of the living cells.
 Human Genome: Complete sequence of genes in the body
o Every cell in the human body except sex cells has
 23 pairs of chromosomes
 46 chromosomes all in all
o Meiosis (cell division for sex cells)
 Cell divisions which the sex cells undergo when they are developing, each of them
end up having only 23 chromosomes
 When sperm and ovum forms the zygote, this now contains 46 chromosomes
o Mitosis (cell division for non-sex cells)
 Process by which non-sex cells divide in half over and over again, the DNA replicates
itself, so that each newly formed cell has the same DNA structure as all the others.
 Mutation- The mistake in copying is made. This are permanent alterations in genetic
material
What determines the sex?
o It is the father’s sperm that genetically determines a child’s sex
o 23 pairs of chromosomes
 Autosomes (not related to sexual expression)- The first 22 pairs of chromosomes
 Sex chromosomes (related to sexual expression)- The last pair of chromosomes
 They can be either X or Y chromosomes
 Every ovum caries X chromosome
 Every sperm cell can either by an X or Y chromosome
o XX- Female
o XY- Male
o Note: Actually just after conception, around the first five weeks we are of the same
structure of the reproductive system. Around 6 to 8 weeks, male embryos start producing
male hormone testosterone.
o However, the development is not automatic since it requires the signal of SRY before
differentiation takes place.
Patterns of Genetic Transmission
o Alleles- Two or more alternative forms of a gene that occupies the same position on paired
chromosomes and affect the same trait
 Example: Allele for dimples (1 allele related to occurrence, the other allele is related
to no occurrence); Allele for eye color (1- Blue, 2- Yellow, 3- Brown)
 Each allele must be identified if they are dominant or recessive cause it
can affect the possibility of their expression
o Dominant allele- Expressed
 In dominant inheritance, the dominant allele is always expressed, or shows up as a
trait it that person.
  You have dimples, that means you inherited a dominant allele for dimples.
They can be either homozygous or hetergyzous
o Recessive allele- Hidden, sometimes expressed
 In recessive inheritance, the person must have two recessive alleles, one from
each parent. If it is expressed, that means the person does not have a dominant
allele. The trait is less likely to be passed through
 Your parents have dimples but you don’t. That means you have inherited
recessive allele for dimples. Which could imply that your parents are
heterozygous
o Homozygous- Possessing two identical allele for a trait
o Heterozygous- Possessing differing alleles for a trait
o Polygenic Inheritance- The interaction of several genes
 Example: Intelligence
Genotypes and Phenotypes: Multifactorial transmission
o Phenotype: Observable characteristics of a person
o Genotype: Genetic makeup of a person, containing both expresses
 2 persons of different genotype may have the same phenotype
o Multifactorial transmission- Combination of genetic environmental factors to produce
certain complex traits
 Some physical characteristics (including height and weight) and most psychological
characteristics (including intelligence and musical ability) are products of
multifactorial transmission
Epigenesis: Environmental Influence of Gene Expression
o Epigenesis- Mechanism that turns genes on and off and determines the functions of body
cells
 Because every cell in the body inherits the same DNA sequence, the function of the
chemical tags is to differentiate various types of body cells, such as brain cells, skin
cells, and live cells. In this way, genes for the types of cells that are needed are
turned on, and genes for unneeded cells are left off.
Genetic and Chromosomal Abnormalities
o Rates of Disorders varies with rates and ethnicity
 Hispanic infants have high risk for hypospadias than non-hispanics
 African American have high risk for Encephalocele and Trisomy 18 or the Edwards
Syndrome
o Dominant or Recessive Inheritance or Defects
 Most of the time, “good genes” are dominant over those carrying abnormal traits
 When one parents has a dominant abnormal gene and one recessive normal gene,
and the other parent has two recessive “good genes”, each of the children has 50-50
chance of inheriting the disease
 Defects transmitted through dominant inheritance are less likely to be lethal than
those transmitted by recessive inheritance
  Defects transmitted by recessive genes tend to be lethal at an earlier age, in
contrast to those transmitted by dominant genes, because recessive genes can be
transmitted by heterozygous carriers who do not themselves have the disorder.

o Sex-Linked Inheritance
 Pattern of inheritance in which certain characteristics carried on the X chromosome
inherited from the mother are transmitted differently her male and female offspring
 Sex-linked recessive disorders are common in males than in females
 Red-green color blindness
 Hemophilia
 Duchenne Muscular Dystrophy
 Occasionally, a female does inherit a sex-linked condition. For this to happen, the
father must have a “bad” copy, and the mother must also be a carrier or herself
have the condition
o Chromosomal Abnormalities
 This typically occurs because of errors in cell division, resulting in an extra missing
chromosome:
 Klinefelter Syndrome- Extra X chromosome (XXY)
 Turner Syndrom- Results from missing sex chromosome
 Common in females because so little information is carried in y
chromosome, an embryo with a Y chromosome only in not viable An
embryo with an X chromosome is common
 Increasing risk with women getting pregnant at later years
 Down Syndrome
 Trisomy 21
 Affects 40% of cases with mental retardation
 There is a single horizontal line across the palm
 Risk increases as mother’s age increases
 The brains of children with down syndrome appear nearly normal at birth
but shrink in volume by young adulthood, particularly in hippocampal area
and prefontal cortex, resulting in cognitive dysfunction, and in the
cerebellum, leading to problems with motor coordination and maintaining
balance
 They benefit more when placed a regular classroom
 Most can function well as adults
 Early intervention, brighter prognosis
GENETIC COUNSELLING AND TESTING
o Clinical service that advises prospective parents of their probable risk of having children with
hereditary defects
 Karyotype- This is a photograph that shows the chromosomes when they are
separated and aligned for cell division. We know that this is a karyotype for Down
 Syndrome because there are three chromosomes instead of the usual two pair of
21. Because pair in 23 consists of two Xs, we know that this is the karyotype of a
female.

NATURE AND NURTURE: INFLUENCES OF HEREDITY AND ENVIRONMENT

Behavioral Genetics- Quantitative study of relative hereditary and environmental influences on

behaviour.
Assumptions of Behavior Genetics:
o If two people are fraternal twins, siblings, or parents and child, they share roughly 50
percent of their genes with each other. While the identical twins shares 100 percent of
their genes
o Therefore, if heredity has a large influence on a particular trait, identical twins should be
more alike on that trait than fraternal twins, and adopted children should be more like
their biological parents than their adopted parents.
Heritability- Statistical estimate of the contribution of heredity to individual differences in a
specific trait within given population
Corcordant- Term describing tendency of twins to share the same trait or disorder
o Twin Studies- Study for the influence of the Genes
 Monozygotic Twins- shares 100% of their genes
 Dizygotic twins- shares 50% of their genes
 If genes is responsible for specific trait, then monozygotic twin must
have a higher possibility to have a trait if the other twin have it than
that of dizygotic twin. Say for example the trait for homosexuality.
Some suggests that it is genetically determined. Therefore, if you have
a identical twin brother homosexual, that means mas taas kag
tendency na maging homosexual sad compared those fraternal twins
lang
 Adoption Studies- Study for the influence of the environment
o If the environment has the greater distribution, those who lived together must
be more similar than those who do not live together
 Other variations of the study:
o Immediate family members might be compared to more distant relatives
o Adopted children might be compared to their biological and adoptive parents
o Example study: Monozygotic twins separated at birth are sought by researchers
who want to study the impact of genes on personality. These twins are not
reunited until age 31, both became firefighters
o Behavior genetics recognize that the effects of genetic influences, especially on
behavioural traits, are rarely inevitable: even in a trait strongly influenced by
heredity, the environment can have substantial impact
HOW HEREDITY AND ENVIRONMENT WORK TOGETHER

 Reaction range
o Potential variability, depending on environmental conditions, in the expression
of a hereditary trait
o Ulitmately, height has genetic limits; we don’t see people who are only 1 foots
tall or who are 10 feet tall.
o Example: You might have gene related to tallness but if your environment is not
nourishing, then you might have stunted growth
 Canalization
o Limitation on variance of expression of certain inherited characteristics
o Highly canalized traits, such as eye color, are analogous to deep canals. They are
strongly programmed by genes and there is little opportunity for variance in
their expression. Because of the deep, genetically dig channel, it would take an
extreme change in the environment to alter their
o Example: Crawling, Walking, Running. These are highly canalized that
regardless of environmental variation all children will have this actions
o Many are those necessary for survival
o However, cognition and personality are not highly canalized and they are
subject to environmental variation
 Genotype-Environment Interaction
o The portion of phenotypic expression that results from the reactions of
genetically different individuals to similar environmental condition
o Example: Many children are exposed to pollen and dust, but those with a
genetic predisposition are more likely to develop allergic reactions. Or those
who are similar genetically may develop differently if they have different
environment
 Genotype-Environment correlations
o Tendency of certain genetic and environmental influences to reinforce each
other; may be passive reactive, or active. Also called genetic-environment
covariance
 Passive Correlations:
 A musically inclined parents are more like to give a musically
reinforcing environment
 Passive: The child has no control to the genes and environment
 Reactive, or evocative correlations
 Children with differing genetic makeups evoke different
reactions from others
 Example: Parents who are not musically inclined may make a
special effort to provide musical experiences for a child who
shows interest and ability in music
  Reactive: Other people reacts to the child’s genetic makeup
 Active Correlations
 As children get older and have more freedom to choose their
own activities and environments, they actively select or create
experiences consistent with their genetic tendencies
 Example: A shy child is more likely than an outgoing child to
spend time in solitary pursuits. An adolescent with a talent for
music will probably seek out musical friends, take music
classes, and go to concerts if such opportunities are available.
 Niche-Picking- Helps explain why identical twins reared apart
tend to have similar characteristics

Prenatal Development

Early signs and Symptoms of Pregnancy

o Tender, swollen breast or nipples
o Fatigue; needs to take extra naps
o Slight bleeding or cramping
o Food cramping
o Food cravings
o Nausea with or without vomiting
o Frequent urination
o Frequent, mild headaches
o Constipation
o Mood swings
o Faintness
Gestation
o The period between conception and birth, an unborn child undergoes dramatic
processes of development
o 37 to 41 weeks
Stages of Prenatal Development
o Three stages: Germinal, Embryonic, and fetal
o Single-cell zygote grows into an embryo and then fetus
o Development is top down: The head and trunk are developed first before the limbs
o Development is center of the body then outward: arms are developed first before the
fingers
Germinal Stage: (Fertilization and two weeks)
o Characterized by rapid cell division, blastocyst formation, and implantation in the wall of
the uterus
 Blastocyst- a fluid-filled sphered, which floats freely in the uterus until the sixth
day after fertilization
  Implantation- The attachment of blastocyst to the uterine wall, occurring at
about day 6
Embryonic Stage (2 to 8 weeks)
o Second stage of gestation characterized by the rapid growth and development of major
body organs (organogenesis)
o Brain growth begins to develop
o Critical period and most vulnerable to the destructive influences in the prenatal
development. That is why damage that occurs in later stages are less serious since the
organs are complete
o Spontaneous abortion (miscarriage)- The expulsion of an embryo or fetus that is unable
to survive outside the womb
o Still birth- Miscarriage after 20 weeks of gestation
o Smoking, drinking, and drug use increases the risk for miscarriage
Fetal Stage (8 Weeks to Birth)
o The appearance of first bone cells signals the beginning of the fetal stage
o This is characterized by increased differentiation of the body parts and realty enlarged
body size
o Finishing touches such as “fingernails, toenails, and eyelids continue to develop”
o Ultrasound- Prenatal medical procedure using high-frequency sound waves to detect
the outline of a fetus and its movements so as to determine whether a pregnancy is
progressing normally
o Male fetuses, regardless of size, are more active and tend to more vigorously than
female fetuses throughout the gestation
o Fetuses respond to the mother’s voice and heartbeat and the vibrations of her body,
suggesting that they can hear and feel
o Fetuses seems to learn and remember. Some sucks more often when they are read the
same stories that their mothers are reading them during prenatal period.
ENVIRONMENTAL INFLUENCES: MATERNAL FACTORS
o Teratogen: Environmental agent, such as virus, a drug, or radiation, that can interfere
with normal prenatal development and cause development abnormalities
o Nutrition and maternal weight
o Malnutrition
o Physical Activity and Strenous work
o Drug Intake
 Medical drugs
 Alcohol
 Nicotine
 Caffeine
 Marijuaa, Cocaine, and Methamphetamine
 Maternal Illness
 Acquired Immunodeficiency Syndrome
 Maternal Age
 Outside Environmental Hazards