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Fertilization
marks the beginning of development where the sperm and ovum combine to create a zygote in the fallopian tube
Fertile Window
unpredictable time during which conception is possible
Maturation of sex cells must occur prior intercourse for conception to be possible
Women → Menarche
Men → Nocturnal Emission
Ovulation
rupture of a mature follicle which occurs every 28 days until menopause
Zygote
duplicates itself through the process of cell division to produce all cells that make up a baby
Dizygotic Twins
fraternal twins that result from the fertilization of 2 separate eggs by 2 sperms
Tend to run in families and passed down from a woman’s mother
Result of multiple eggs being released at one time
Monozygotic Twins
identical twins that result from the cleaving of 1 fertilized egg
Twin-to-twin Transfusion Syndrome
condition in which nutrients are shared unequally as a result of an abnormal formation of blood vessels in the placenta
Mitosis
process by which somatic cell’s nucleus duplicates itself to form two new cells
Genetic identity of the parent cell is preserved, leading to minimal genetic variation among daughter cells
Results in the formation of two identical diploid daughter cells
“Copy and stay the same”
ex: When you get a cut, your skin heals using mitosis, Growing taller → more body cells made by mitosis
meiosis
specialized form of cell division that is involved in the production of gametes for sexual reproduction (sperm and egg)
Introduces genetic diversity and results in genetically unique daughter cells
Results in the formation of four non-identical haploid daughter cells
“Mix and reduce”
ex: Testes produce sperm using meiosis, Ovaries produce eggs using meiosis
This is why children are genetically different from their parents
Gene
segments of DNA that contain the instructions for building and maintaining an organism
Help cells to reproduce themselves and help manufacture the proteins that maintain life
Chromosomes
threadlike structures that come in 23 pairs and contain DNA
Deoxyribonucleic Acid (DNA)
a complex molecule that contains genetic information
Mutation
a permanent alteration in the DNA sequence of a gene; can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection
Proteins
building blocks of cells and regulators that direct the body’s processes
Human Genome
reference point that shows the location of all human genes
complete set of DNA in a human.
It’s like your body’s instruction manual that tells your cells how to grow, function, and stay alive.
Methylation
tiny atoms attach themselves to the outside of a gene resulting in certain genes becoming turned on or off
Susceptibility Genes
genes that make the individual more vulnerable to specific diseases or accelerated aging
Longevity Genes
genes that make the individual less vulnerable to certain diseases and more likely to live to an older age
Sex-Linked Genes
genes that determine an individual's sex / gender at birth; twenty-third pair of chromosomes
XX: Female sex chromosomes
XY: Male sex chromosomes
Autosomes
chromosomes that are not related to sexual expression
They are your body’s “regular chromosomes” that control most of your traits
X-linked Inheritance
when a mutated gene is carried on the X chromosome
when a trait or disorder is caused by a gene on the X chromosome.
More commonly expressed in males because they lack a second X chromosome to mask the effects of the recessive allele
Females carrying one normal and one mutated X-linked allele are typically carriers and may not express the disorder
Mendel's laws of inheritance
include law of dominance, law of segregation, and law of independent assortment
Allele
two or more alternative forms of a gene that occupy the same position on paired chromosomes and affect the same trait
different versions of the same gene that cause variations in traits.
you always have 2 alleles for each gene
ex:
BB | Brown eyes |
Bb | Brown eyes (dominant wins) |
bb | Blue eyes |
Homozygous
possessing two identical alleles for a trait
Heterozygous
possessing two different alleles for a trait
Dominant Inheritance
pattern of inheritance in which, when a child receives different alleles, only the dominant one is expressed
Dominant Gene
an allele that is expressed in the phenotype even when only one copy is present in the genotype (heterozygous condition)
a gene that shows its effect even if only one copy is present.
It “wins” over the other gene
Recessive Inheritance
pattern of inheritance in which a child receives identical recessive alleles, resulting in expression of a nondominant trait
Recessive Gene
an allele that is expressed in the phenotype only when two copies are present in the genotype (homozygous condition)
a gene that only shows its effect if both copies are the same
Polygenic Inheritance
inheritance of traits that are controlled by multiple genes, each with a small additive effect
multiple genes work together to control one trait.
Multifactorial Transmission
a phenomenon by which environmental experience modifies the expression of the genotype for most traits
when a trait or condition is caused by both genes AND environmental factors.
It’s not just your genes—your lifestyle and environment also matter
Genotype
person’s genetic heritage; the actual genetic material
It’s what’s in your DNA
ex: BB, Bb, bb
Phenotype
the observable, physical, and biochemical traits of an organism
It’s how your genes show up physically
ex: Brown eyes, Blue eyes, Tall or short
Epigenesis
an organism develops step by step, with structures forming gradually over time.
gradual development of an organism from a simple beginning
how the body develops
epigenetics
mechanism that turns genes on or off and determines functions of body cells
Genes are turned off or on as they are needed by the developing body or when triggered by the environment
Explains why identical twins, even though their genomes are identical, do not look exactly the same
Genetic Imprinting
occurs when the expression of a gene has different effects depending on whether the mother or the father passed on the gene
when only one copy of a gene is active, depending on whether it came from your mother or father.
You inherit two copies of a gene, but one is “turned off”
Down Syndrome (Trisomy 21)
extra copy of chromosome 21
associated with intellectual disabilities, distinctive facial features, and an increased risk of certain health issues
Cri-du-chat Syndrome
deletion on the short arm of chromosome 5
may have a distinctive cry resembling a cat
Edwards Syndrome (Trisomy 18)
extra copy of chromosome 18
associated with severe intellectual disabilities, congenital heart defects, and abnormalities in various organ systems
Patau Syndrome (Trisomy 13)
extra copy of chromosome 13
severe developmental and physical abnormalities, including intellectual disabilities, heart defects, and cleft lip and palate
Prader-Willi Syndrome
genes on chromosome 15 are missing or inactive
intellectual disabilities, obesity, and behavioral issues
Alpha, Antitrypsin Deficiency
mutation in chromosome 14
enzyme deficiency that can lead to cirrhosis of the liver, emphysema, and degenerative disease in middle age
Alpha Thalassemia
mutation in chromosome 16
severe anemia that reduces the ability of the blood to carry oxygen, and all affected infants are stillborn or die soon after birth
Beta Thalassemia (Cooley’s Anemia)
mutation in chromosome 11
severe anemia resulting in weakness, fatigue, and frequent illness; usually fatal in adolescence or young adulthood
Cystic Fibrosis
mutation in chromosome 7
overproduction of mucus which collect in the lungs and digestive tract; children do not grow normally and usually do not live beyond the age of 30
Anencephaly
influenced by a combination of environmental and genetic factors associated with the formation and closure of the neural tube during embryonic development
absence of the cerebral hemispheres and the overlying skull and scalp; infants are stillborn or die soon after birth
Spina Bifida
mutation in chromosome 11; the neural tube / spinal column fails to close properly
muscle weakness or paralysis, loss of bladder and bowel control, hydrocephalus, and mental retardation
Phenylketonuria (PKU)
caused by the inability to metabolize the amino acid, phenylalanine
intellectual disability / hyperactivity if left untreated
Polycystic Kidney Disease
Infantile form: enlarged kidneys, leading to respiratory problems and congestive heart failure
Adult form: kidney pain, kidney stones, and hypertension resulting in chronic kidney failure
Sickle-cell Anemia
a recessive gene causes the red blood cell to become a hook-shaped “sickle” that cannot carry oxygen properly
limits the body’s oxygen supply; joint swelling, and heart / kidney failure
Tay-Sachs Disease
deceleration of mental and physical development caused by an accumulation of lipids in the nervous system
Diabetes
body doesn't produce enough insulin, which causes abnormal metabolism of sugar
Huntington’s Disease
central nervous system deteriorates, producing problems in muscle coordination and mental deterioration
Angelman Syndrome
absence or dysfunction of maternal genes on chromosome 15
developmental delays, seizures, and a happy demeanor
Turner Syndrome (XO)
occurs in females with a single X chromosome (45, X)
short stature, webbed neck, and infertility
Klinefelter Syndrome (XXY)
affects males with an extra X chromosome (XXY)
reduced fertility, gynecomastia (enlarged breasts), and other physical characteristics
Triple X Syndrome (XXX)
occurs in females with an extra X chromosome (47, XXX)
most individuals have no or mild symptoms, but some may experience learning difficulties, menstrual irregularities, and mental retardation
XYY Syndrome
affects males with an extra Y chromosome (47, XYY)
tall structure, low IQ, especially verbal
expansion of a particular region on the X chromosome
minor to severe mental retardation, delayed speech and motor development, speech impairments, and hyperactivity
Duchenne Muscular Dystrophy
mutation in the X sex chromosome
fatal disease usually found in males; marked by muscle weakness, minor mental retardation, respiratory failure and death in young adulthood
Behavior Genetics
field that seeks to discover the influence of heredity and environment on individual differences in human traits and development
Heritability
statistical estimate of contribution of heredity to individual differences in a specific trait within a given population
Concordant
tendency of twins to share the same trait or disorder
Twin Study
behavioral similarity of identical twins is compared with the behavioral similarity of fraternal twins
Adoption Study
seek to discover whether the behavior and psychological characteristics of adopted children are more like those of their adoptive parents or more like those of their biological parents
Reaction Range
Range of potential expressions of a hereditary trait
Depends on environmental opportunities and constraints and a person’s behavior
Canalization
Illustrates how heredity restricts the range of development for some traits
Strongly programmed by genes and there is little opportunity for variance in their expression
It would take an extreme change in environment to alter their course
Genotype-Environment Interaction
Effects of similar environmental conditions on genetically different individuals
Genetically similar children often develop differently depending on their home environments
Analogous to diathesis-stress model
Genotype-Environment Correlations
Tendency of certain genetic and environmental influences to reinforce each other
Passive
when an individual’s environment is correlated with the genetic makeup they inherit from their parents
The environment reacts to you
ex: A naturally cheerful baby gets more positive attention from parents, A child with reading talent is encouraged by teachers
Evocative
when an individual's genetically influenced characteristics evoke specific responses from others in their environment
You evoke reactions from your environment
ex: A talkative child makes friends easily → people include them in activities, A shy child receives more reassurance from adults
Active
when individuals seek out or create environments that are compatible with their interests (niche-picking)
You actively choose environments that fit your genes
ex: A genetically musical child joins a band class, A naturally athletic teen chooses soccer practice
Nonshared Environment
Unique environment in which each child in a family grows up
Consists of distinctive influences or influences that affect one child differently than another
accounts for most of the difference
Children’s genetic differences may lead parents to react to them differently and treat them differently
Prenatal Development
gestation that takes place in three stages: germinal, embryonic, and fetal
Gestation
period of development between conception and birth
Gestational Age
age of an unborn baby dated from the first day of an expectant mother’s last menstrual cycle
Cephalocaudal Principle
dictates that development proceeds from the head to the lower part of the trunk
Babies develop control of head and upper body first, then arms and legs.
Proximodistal Principle
dictates that parts of the body near the center develop before the extremities
36th
At the what hour of fertilization, the zygote enters a period of rapid cell division and duplication (mitosis)
3rd day (72nd Hour)
By the what, the cell has divided into 16 → 32 cells
4th
By the what day, 32 → 64 → 128 cells (blastocyst)
4th – 5th Day
fertilized ovum makes its way through the fallopian tube to the uterus
6th – 7th Day
blastocyst begins to implant itself in the uterine wall through the process of implantation
Blastocyst
fluid-filled sphere, which floats freely in the uterus
Embryonic Disk
thickened cell mass from which the embryo begins to develop
Implantation
attachment of the blastocyst to the uterine wall
11th – 15th Day
process of implantation concludes which marks the beginning of the embryonic stage
Other parts of the blastocyst begin to develop into organs that will nurture and protect development in the womb
Amniotic Sac
fluid-filled membrane that encases the developing embryo
Placenta
allows oxygen, nourishment, and wastes to pass between mother and embryo
Umbilical Cord
connects a developing fetus to the placenta, allowing for the exchange of nutrients, oxygen, and waste products between the fetus and the mother
Endoderm
inner layer of cells, which will develop into the digestive and respiratory systems
Mesoderm
middle layer, which will become the circulatory system, bones, muscles, excretory system, and reproductive system
Ectoderm
outermost layer, which will become the nervous system and brain, sensory receptors, and skin parts
Organogenesis
organs and major body systems (respiratory, digestive, and nervous) develop rapidly
Spontaneous Abortion
natural expulsion from the uterus of an embryo that cannot survive outside the womb (miscarriage); often occurs during the first trimester
Stillbirth
miscarriage that occurs after 20 weeks of gestation
3rd Week
neural tube that eventually becomes the spinal cord forms
21 Days
eyes begin to appear
24 Days
cells for the heart begin to differentiate
4th Week
urogenital system becomes apparent
Arm and leg buds emerge
Four chambers of the heart take shape
Blood vessels appear