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Reviewer for Genetics 311, Study notes of Genetics

Reviewer for Genetics, goodluck everyone!

Typology: Study notes

2022/2023

Uploaded on 12/19/2023

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INTRO TO GENETICS
GENETICS
- It is the scientific study of heredity
(how traits are passed from parents
to offspring as a result of changes in
the DNA sequence)
The fundamental units of heredity:
Nucleotide bases
Gene
DNA
Chromosomes
4 Major Subdivisions
1. Classical genetics
2. Molecular genetics
3. Population genetics
4. Quantitative genetics
1. Classical genetics
- describes how traits (physical) are
- passed along from one generation to
another
- includes Cytogenetics
- provides the framework in genetic
counseling to interpret people’s
medical histories sometimes referred
to as:
1. Mendelian genetics
2. Transmission genetics
Gregor Mendel
- Father of genetics (original
and old school)
2. Molecular genetics
- the study of the chemical and
physical structures of DNA,
RNA, and its proteins
involves the following:
1. gene expression
2. mutations
3. gene therapy
4. genetic engineering
5. cloning
3. Population genetics
- takes Mendelian genetics
and ramps it up to look at the
genetic makeup of larger
groups
- often mathematical
- helps the genetic signature of
a particular group such as:
- travel
- isolation
- mating choices
- geography and behavior
4. Quantitative genetics
- highly mathematical field that
examines the statistical
relationships between genes
and the traits they encode
- involve characteristics like
the retrieving ability of dogs,
egg size or number in birds,
and running speed in
humans
- Used heavily in agriculture
for plant and animal breeding
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INTRO TO GENETICS

GENETICS

  • It is the scientific study of heredity (how traits are passed from parents to offspring as a result of changes in the DNA sequence) The fundamental units of heredity: ● Nucleotide bases ● Gene ● DNA ● Chromosomes 4 Major Subdivisions
  1. Classical genetics
  2. Molecular genetics
  3. Population genetics
  4. Quantitative genetics 1. Classical genetics
  • describes how traits (physical) are
  • passed along from one generation to another
  • includes Cytogenetics
  • provides the framework in genetic counseling to interpret people’s medical histories sometimes referred to as:
  1. Mendelian genetics
  2. Transmission genetics Gregor Mendel
  • Father of genetics (original and old school) 2. Molecular genetics
  • the study of the chemical and physical structures of DNA, RNA, and its proteins involves the following:
  1. gene expression
  2. mutations
  3. gene therapy
  4. genetic engineering
  5. cloning 3. Population genetics
  • takes Mendelian genetics and ramps it up to look at the genetic makeup of larger groups
  • often mathematical
  • helps the genetic signature of a particular group such as:
  • travel
  • isolation
  • mating choices
  • geography and behavior 4. Quantitative genetics
  • highly mathematical field that examines the statistical relationships between genes and the traits they encode
  • involve characteristics like the retrieving ability of dogs, egg size or number in birds, and running speed in humans
  • Used heavily in agriculture for plant and animal breeding

DNA vs. RNA DNA

  • Deoxyribonucleic acid
  • Double-stranded
  • Deoxyribose
  • Base pair of nucleobase RNA
  • Ribonucleic acid
  • Usually single-stranded
  • Ribose
  • Single nucleobase DEVELOPMENT OF GENETICS Greek philosophers: Phytagoras & Aristotle
  • they focused on three categories:
  1. Vapors and fluids
  2. Preformation
  3. Particulate inheritance Pythagoras
  • proposed “vapors” Aristotle
  • assigned a “vitalizing” Charles Darwin
  • established that all species of life have descended over time from a common ancestry
  • Pangenesis:
  • “Pan” (whole or encompassing)
  • “genesis” (birth)
  • a model based on the inheritance of tiny heredity particles he called “gemmules” Francis Galton
  • worked on “Variation under domestication”, concerning animal

CHARACTERISTICS OF USEFUL

EXPERIMENTAL ORGANISM

1. Variation - should show a number of detectable differences: - The larger the number of discontinuously differing traits - The more clearly marked they are, the greater the usefulness of the species for genetic study. Two Major Causes: 1. Genotypic variance – differences in genetic makeup 2. Environmental variance - differences in the environment among individuals 2. Recombination - permits the comparison of one expression of a character with another expression of the same trait - the result of sexual reproduction of the two sex cells (gametes) that will form as a fertilized egg (embryo) 3. Controlled Mating - Genetic study is far more easier if it is possible to control mating, parental lines with particular purposes, and keep careful records of offspring through several generations - Drosophila melanogaster

  • Arabidopsis thaliana
  • Mus musculus
  • Zebrafish
  • Yeast
  • Caenorhabditis elegans
  • E. coli 4. Short Life Cycle
  • Chosen organisms must require only a short time between generations 5. Large Number of Offspring
  • Studies are greatly speeded if the organism chosen produces fairly sizeable lots of progeny per mating
  • The larger the number of progeny, the greater the likelihood of detecting rare events 6. Convenience of Handling
  • experimental species should be of a type that can be raised, maintained conveniently, and inexpensively **METHODS OF GENETIC STUDY
  1. Pedigree Analysis**
  • A chart that displays a family tree, and shows the member who are affected by a genetic trait
  • Used in cases where controlled breeding programs are impossible 2. Karyotyping
  • Used to detect chromosomal abnormalities
  • Make use of a karyogram: a pictorial representation of chromosomes 3. Statistical Analysis

pair of alternative characters

  • Example: Flower color 2. Dihybrid cross
  • cross in which parents differ in two pairs of alternative characters
  • Example: Flower color & Plant height Rules in using punnett square:
  1. Know which characteristic is dominant
  2. Decide on the appropriate key. Recommended to use is the first letter of the recessive trait
  3. Determine the genotype of the parents
  4. Determine all possible types of gametes for both parents Probability
  • The probability of an event is the frequency of that event in the sample space.
  • For a coin toss: ‣The probability of heads is 1/2. ‣The probability of tails is 1/2.
  • For two heterozygotes (Gg) producing an offspring: ‣The probability of GG is 1/4. ‣The probability of Gg is 1/2. ‣The probability of gg is 1/4. GENETIC TERMINOLOGIES Allele
  • Most genes exist in many forms called alleles
  • An allele is any of the alternative forms of a gene that may occur at a specific locus
  • our cells have two alleles for each gene, one from each parent **Dominant Vs. Recessive
  • Dominant allele**
  • masks the contribution of the second allele
  • expresses itself when the genotype is heterozygous or homozygous
  • represented by uppercase letter (A) - Recessive allele
  • gene that shows up less often in a cross
  • expresses only itself when the genotype if homozygous
  • Represented by lowercase letter (a) **Genotype Vs. Phenotype
  • Genotype**
  • Refers to the two alleles an individual has for a specific trait
  • If identical, genotype is HOMOZYGOUS
  • If different, genotype is HETOROZYGOUS
  • genes - Phenotype
  • Refers to the physical appearance of an individual
  • physical characteristics: tall and short; T - tall, t - short **Genotypes
  • Homozygous genotype**
  • Also known as pure oPair of similar or like genes for any one character
  • Gene combination involving 2 dominant or 2 recessive genes
  • Example: AA or aa - Heterozygous genotype
  • Also known as hybrid o pair of contrasting traits or two kinds of genes
  • Combination of one dominant and one recessive allele
  • Example: Aa Human Traits One-Trait Inheritance
  • Mendel performed cross breeding experiments
  • Used “true-breeding” (homozygous) plants
  • Chose varieties that differed in only one trait (monohybrid cross)
  • Performed reciprocal crosses ‣Parent generation = P ‣First fillial generation offspring = F ‣Second fillial generation offspring = F
  • Formulated the Law of Segregation One-Trait Test Cross in Homozygous Dominant & Homozygous Recessive P1 Monohybrid Cross Review
  • Homozygous dominant x Homozygous recessive
  • Offspring: Heterozygous
  • Offspring called F1 generation
  • Genotypic and Phenotypic ratio is ALL ALIKE Law of Segregation •Each individual has a pair of factors (alleles) for each trait
  • The factors (alleles) segregate (separate) during gamete (sperm & egg) formation
  • Each gamete contains only one factor (allele) from each pair
  • Fertilization gives the offspring two factors for each trait Punnett Square Showing Earlobe Inheritance Patterns F1 Monohybrid Cross Review
  • Heterozygous x Heterozygous
  • Offspring:
  • 25% Homozygous dominant EE
  • 50% Heterozygous Ee
  • 25% Homozygous recessive ee
  • Offspring called F2 generation
  • Genotypic ratio 1:2:
  • Phenotypic ratio is 3: Law of Dominance
  • The Principle of Dominance ‣ in a cross of parents that are pure for contrasting traits, only one form of the trait will appear in the next generation ‣ all offspring will be heterozygous and express only the dominant trait ‣ RR x rr yields all Rr (round seeds)

All of their children will have WPH Example of a true breeding? That’s why it’s 100% Homodominant = WW; ¼ or 1:4 or 25%F Genotype: homo or hetero Since F1 is hetero/white there's no yellow Two-Trait Inheritance

  • Dihybrid cross uses true-breeding plants differing in two traits
    • Observed phenotypes among F plants
    • Formulated the law of independent assortment o The pair of factors for one trait segregate, or as we sometimes say, assort, independently of each other o All possible combinations of factors can occur in the gametes No variety kasi 100% hetero

Overall pr: 9:3:3: di-hydrid walang percentage na SHORTCUT METHOD: Homo dominant: AA Hetero: Aa Homo recessive:aa See papers for solution

‣X-Linked Recessive •An individual with AA is UNAFFECTED •An individual with Aa does NOT have disorder, but is a CARRIER •An individual with aa is AFFECTED Autosomal Disorders

  • Autosome - Any chromosome other than a sex chromosome
  • Genetic disorders caused by genes on autosomes are called autosomal disorders
    • Some genetic disorders are autosomal dominant
    • An individual with AA has the disorder
    • An individual with Aa has the disorder
    • An individual with aa does NOT have disorder
  • Other genetic disorders are autosomal recessive
    • An individual with AA does NOT have disorder
    • An individual with Aa does NOT have disorder, but is a carrier
    • An individual with aa DOES have the disorder Autosomal Dominant Disorders
  • Neurofibromatosis
    • • Tan or dark spots develop on skin and darken
    • • Small, benign tumors may arise from fibrous nerve coverings
  • Huntington Disease
    • Neurological disorder
    • Progressive degeneration of brain cells
      • Severe muscle spasms
      • Personality disorders Autosomal Recessive Disorders
        • Tay-Sachs Disease
          • Progressive deterioration of psychomotor functions in children
        • Cystic Fibrosis
          • Mucus in bronchial tubes and pancreatic ducts is particularly thick and viscous •Phenylketonuria (PKU)
          • Lack enzyme for normal metabolism of phenylalanine

Incomplete Dominance

  • The phenotype of the heterozygote is midway between the phenotypes of the two homozygotes.
  • One allele is partially, or incompletely, dominant over the other. Codominance
  • The heterozygote expresses the phenotypes of both homozygotes.
  • Neither allele is dominant.
  • ABO Blood groups Multiple Allelic Traits
    • Some traits controlled by multiple alleles
    • The gene exists in several allelic forms (but each individual only has two)
  • The white mutation produces white eyes.
  • When both mutations are present in the same fly, the eyes are white.
  • The white mutation is epistatic to the cinnabar mutation. Gametes per parent 3 rd^ law: Law of independent? Foil method Fork-line method? Parents 2 diff l: 1 dom and 1 rec 2 gs, both gg= homogenous Number of gametes: 2 ● Lg ● lg llGg Number of gametes: 2 ● lG ● lg Number only don’t include the word gametes If All Heterozygous= none are similar (homogenous: AA oe aa) Then they have NO similar gametes

For Genetic Ratio and Phenotypic Ratio Pr: 2 long and 2 short 2 grey and 2 black Pattern out pr Population from these parents: fair phenotypes, everyone can have any of the traits If specific is required: probability % Add everything then

TRI-HYBRID

AAbbDD 1 type of A,b, and D 1 gamete = AbD AABBDd 1 type of A,B 2 types of D (D and d) 2 gametes: ● ABD ● ABd