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Gregor Mendel
Father of genetics. Worked with a variety of pea plants. He looked at texture, color,, etc. Goal was to understand how traits are passed on.
Particular Inheritance
Each trait is determined by a pair of discrete particles (alleles).
Laws of segregation
Allele pairs segregate from one another. Each pair is inherited at random.
Independent assortment
Alleles for different genes are inherited independently of one another.
Genes
A stretch of DNA that produces a protein product. Only functional segment of DNA that is transcribed.
Alleles
The particular DNA sequence in that segment of the genome.
Genotype (Homozygous)
When a person has two identical versions of a gene, one from each parent.
Genotype (Heterozygous)
When an organism has two different versions of the same gene.
Phenotype
A set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.
Dominance
Expressed even in the presence of different allele. Ex: Brachydactyly
Recessiveness
Expressed only when an individual has two copies of the same allele. Ex: Albinism
Chromosomes (autosome)
Are not sex chromosomes. There are 22 autosomes and are paired with sex chromosomes. They look the same in both genders.
Chromosomes (sex chromosome)
Carry genes that determine an individuals sex.
Haploid
A single set of chromosomes in an organism’s cells.
Diploid Cells
Receive half of their chromosomes from their father, and half from their mother.
Meiosis
special type of cell division that produces gametes (sperm and egg cells)
Fertilization
The process of a sperm and egg uniting to create a zygote (diploid cell).
Crossing over
Cellular process that occurs during meiosis when chromosomes of the same type line up.
Recombination
The process of exchanging genetic material between organisms, which results in offspring with different trait combinations than either parents.
Brachydactyly
Genetic condition that causes fingers and toes to be shorter than normal relative to the length of other parts of the body.
Pedigrees
A diagram that shows how a trait or health condition is passed down through generations within a family.
Folk Heredity
Cultural ideas about heredity, not entirely scientific. Scientists believed that undesirable behaviors and acts were connected to a recessive allele. They connected this to people in poverty.
Henry Goddard (The Kallikak Family)
Believed that people inherit feeble-mindedness and should reproduce accordingly.
Eugenics (Positive)
Encourage reproduction another the genetically advantaged. So, wanted the reproduction of the healthy, the intelligent, and the successful.
Eugenics (Negative)
Suppressed reproduction among people that were considered inferior.
Charles Davenport
Founded the eugenics record office and the American eugenics society. Promoted sterilization and wanted to prevent those who were deemed unfit to produce.
Madison Grant (Passing of the Great Race)
Published a book called “The passing of the great race. Also drew connections between the ideas of eugenic and race.
Buck v. Bell
Carrie and Emma Buck were sterilized without their knowledge. Despite both being deemed feeble-minded, they went on to be in good standing academically.
DNA (deoxyribonucleic acid)
Made up of letter strings. Has 3.2 billion nucleotides. It is how traits are passed along from parents to offspring, which depends on the DNA structure
DNA Replication
Allows DNA to be duplicated easily. Anytime there is a new cell being created in the body DNA replicating is occurring. This is a process that take advantage of the DNA
DNA polymorphisms (another way of saying genetic variation)
Single nucleotide substitution: single letter change in the DNA sequence.
Ex: TCGCATA → TCGTATA
Indel: Extra nucleotide (insertion or deletion)
Ex: TCACATA → TCGCTATA
TCGCATA → TCGCTA
Duplication: a cell copies its DNA before dividing.
Ex: TCGCATA → TCGCACATA
Inversion: something gets cut out flipped 180 degrees and then put back (put back backward0
Ex: TCACATA → TCFTACA
Translocation: a chunk of chromosomes gets removed, and then
attached to a new place.
Microsatellite: a string of DNA from 1-6 letters that will be repeated over again
Human genome
Depending on the male’s age depends on how many genes from the father were given to the children. Includes both nuclear and mtDNA.
Transcription
Creates single stranded RNA based on the double stands DNA.
RNA
single stranded
contains ribose sugar
RNA Processing
mRNA modification.
Cap
tail
splice
Exon vs. Intron
Exon: the nucleotide sequence you keep.
Intron: the nucleotide you don’t need, so they get cut out.
Translation
Cell proteins using the genetic information carried in messenger RNA (mRNA)
Codons
A sequence of three DNA or RNA nucleotides that corresponds to a specific amino acids or stop signal during protein synthesis.
The genetic Code
A set of rules that living cells use to translate genetic material into proteins.
Amino acids
An organic compounds that contain both amino and carboxylic acid functional groups.
Proteins
Molecules made up of amino acids.
This includes:
Structural
Transport
Enzyme
Nutrient
Defense
Regulatory
Pleiotropy
One gene influences multiple traits.
Polygenic traits
A trait influenced by multiple genes.
Regulation of gene expression
A set of mechanisms that cells use to increase or decrease the production of specific gene products.
Sickle cell trait
A genetic trait caused by a single genetic strand. It is assumed that this is a disease connected solely to black people. This isn’t true.
Thalassemia (Alpha)
Deficiency in production of alpha global chain.
Thalassemia (Major)
Reduced production of beta globes chain.
Hox genes
Influenced by early embryo development. Plays a part in determining what each part of the embryo gets developed. Ex: the head, neck, etc.
Human variation in height
There’s a connection between height and environment. People who live in colder climates are shorter than people who live in hotter climates.
Cormic index
Sitting height ÷ Standing height
Human variation in weight/ body mass
Body weight is also connected with climate. People usually have more body mass in colder climates than people who live hotter climates. Metabolic heat production is proportional to body weight/volume.
Bergmann’s rule
Organisms living in colder climates have larger, heavier bodies (total body mass is greater).
Allen’s rules
Appendage length is shorter in colder climates and longer in warmer climates.
Skin function:
Dermis: Inner layer of the two main layers of the skin.
Epidermis: Outside layer and made up of cells called keratinocytes.
Keratinocytes: Produce keratin, which is a tough, protective protein.
Melanocytes: Produces and contains the pigment called melanin.
Epigenetic (DNA methylation)
A type of epigenetic modification that regulates gene expression.
Hardy-Weinberg equilibrium model
Describes a relationship between allele and genotype frequencies in a non-evolving population.
Mutation
Random change in the DNA sequence which can cause certain traits to become present, usually occurs from a transcription error.
Genetic essentialism
The belief that genes are linked to certain behaviors, conditions, or social groups.
Alternative splicing
Generates several proteins from one gene.
Population genetics
The genetic composition of a population and how its allele frequencies change over time and across space.
Non-random mating
Assortative mating, which is mating influenced by a phenotype with a genetic basis.
Mitochondrial DNA (mtDNA)
Generates energy/powers the cells. mtDNA is passed down from the mother.
Gene Flow
The transfer of genes from one population to another.
Monogenic
Traits that stem from a single gene.
Antigens
Proteins recognized by the immune system and capable of stimulating production of antibodies.
Antibodies
Proteins in the blood serum that react to foreign antigens and protect the body by binding to those antigens.
Karl Landsteiner
Conducted experiments with blood to explain why some blood samples clumped and others would not when reacting with each other, responsible for the ABO blood group system.
ABO blood group
A and B are dominant alleles, O is a recessive allele.
ABO blood types and selection
AA, AO, BB, BO,AB,OO
Duffy blood group
Three co-dominant alleles: Fy^a, Fy^b, Fy^c (Fy^4)
Alleles coding for specific antigens on the red blood cells.
Allele frequencies reflects selection for resistance to malaria caused by plasmodium
vivax
Hemoglobin
A protein in Red blood cells that carries oxygen. Has an alpha globin and beta globin.
Melanin
Plays a roles in absorbing and scattering uv radiation
Prevent radiation from getting deeper into the body due to it being the things that can
destroy DNA
Two types of melanin: eumelanin and pheomelanin
Skin color
Constitutive skin color: genetically-determined melanin pigmentation produced without any influence of solar radiation.
facultative skin color: short lived tanning that result from exposure to UV radiation
Genetic basis of skin color
The color of your skin has no influence on how many melanocytes you have. It depends on how much melanin one has.
Darker skin = equal distribution of melanin (more melanin)
Lighter skin = less melanin
Evolutionary hypotheses for skin color variation
Melanin pigmentation evolved to regulate UV exposure
Erythroblastosis fetalis
a rare pregnancy complication that occurs when the mother’s antibodies destroy the fetus’s red blood cells.
Molecular mimicry
One of the leading mechanisms by which infectious or chemical agents may include autoimmunity. It occurs when similarities between foreign and self-peptides favor an activation of autoreactive T or B cells by a foreign-derived antigen in a susceptible individual.
Blood
Erythrocytes: Red blood cells
Leukocytes: White blood cells
Serum: Fatty acids
Phylogeny
Diagram showing the common ancestors of a set of DNA sequences.
Deme
The breeding population; group of interacting individuals who can potentially mate and interbreed
Agglutination
The clumping of cells due to antibodies binding to antigens.
Genetic drift (bottleneck, founder effect)
Refers to genes randomly changing in frequency all by chance. Genotypes may disappear entirely.
Rhesus Blood group system
Two phenotypes: RH+ and RH-
If you have Rh+, you have RH antibodies, but no RH antigens are attached to the blood cells.
If you have RH-, you have no RH antibodies, but has the RH antigens on the red blood cells