General Biology 1
GENETICS
Week 11 / November 8, 2021 / Lecture Notes
Introduction
Gregor Mendel – discovered basic principles of
heredity by breeding garden pees (identified 2 laws
of inheritance through scientific approach)
Why Pea Plant – fast to reproduce, many
observable characteristics (either 2 traits), many
offspring = many evidences, controlled mating
(self/cross polli)
Character – heritable feature, varies among
individuals [flower color]
Trait – each variant of character [purple/white]
Hybridization – mating 2 contrasting true-breading
varieties (homozygous)
P Generation – true-breeding parents
F1 Generation – hybrid offspring of P generation
F2 Generation – F1 individuals self/cross pollinate
with other F1 hybrids
Law of Segregation
Law of Segregation – single character
Blending Hypothesis (1800) – explanation of
heredity, cross 2 different traits = new trait
(debunked by Mendel), theory is WRONG
Particulate Inheritance – return of parental
phenotypes, theory is RIGHT
Dominant Trait – manifested in the observable
trait
Recessive Trait – not manifested, stored trait
Gene – heritable factor
Mendel’s Model
1. Alternative gene version account for variation in
inherited character (2 versions in pea plants)
Allele – alternative versions of genes, resides as
specific locus on specific chromosome
2. For each character, organism inherits 2 alleles (1
from each parent)
3. If 2 alleles differ at a locus, the dominant allele
determines appearance, recessive allele no effect
4. Law of Segregation – 2 alleles
separate/segregate during gamete formation (end up
in different gametes), egg/sperm gets only 1 of 2
alleles present, segregation corresponds to
distribution of homologous chromosomes to diff
gametes in meiosis
Punnett Square (Reginald Punnett) – shows
possible combinations of sperm and egg
Capital Letter – dominant; Lowercase – recessive
Genetic Vocabulary
Homozygote – 2 identical alleles for a gene [PP],
true-breeding
Heterozygote – 2 different alleles for a gene [Pp],
not true-breeding
Phenotype – physical appearance [purple/white]
Genotype – genetic makeup [homo recessive]
Testcross – to determine genotype
*breeding mystery individual with homozygous
recessive > display recessive phenotype > then the
mystery parent must be heterozygous*
Law of Independent Assortment
Law of Independent Assortment – each allele
segregates independently in crossing 2 characters
*only applies to different nonhomologous
chromosomes/far apart on same chromosome*
*genes located near each other on same
chromosome tend to be inherited together*
Monohybrid – heterozygous for 1 character
Monohybrid Cross – between
heterozygotes
Dihybrid – heterozygous for both characters
Dihybrid Cross – between F1 dihybrids
(determine whether 2 characters are
transmitted as a unit or independently)
*cross 2 homozygote parent = F1 heterozygous*
Extended Mendelian Genetics for a Single Gene
 Alleles are not completely
dominant/recessive
 Gene has more than 2 alleles
 Gene produces multiple phenotypes
Degrees of Dominance
Complete Dominance – phenotype of heterozygote
and dominant homozygote are identical
Incomplete Dominance – phenotype of F1 hybrids
is between phenotypes of 2 parental varieties
Codominance – 2 dominant alleles affect
phenotype in distinguishable ways [Dalmatians]
Multiple Alleles
Multiple Alleles – genes exist in more than 2 allelic
form [blood type]
Jan Pauline B. Babina, 11 – STEM 01
1
General Biology 1
GENETICS
Week 11 / November 8, 2021 / Lecture Notes
Pleiotropy – multiple phenotypic effects [1 allele =
cystic fibrosis and sickle-cell disease]
Extending Mendelian Genetics: 2 or More Genes
Epistasis – 1 gene affects phenotype of another
(due to interaction of their gene products), gene
expression at 1 locus alters phenotype at 2nd locus
[pigment color and color/no color]
Polygenic Inheritance – multiple genes
independently affect a single trait, additive effect of
2 or more genes on single phenotype [height - 180
genes affect height, skin pigmentation]
Quantitative Characters – vary in
population among continuum
Nature and Nurture: Environmental Impact
 Phenotype for a character depends on
environment, as well as genotype
Phenotypic Range – broadest for polygenic characs
Multifactorial – traits that depend on multiple
genes combined with environmental influences
Phenotype – physical appearance, internal
anatomy, physiology, behavior, reflects overall
genotype and unique environmental history
Mendelian Patterns of Inheritance
Human Genetics – analyze results of human
matings that have already occurred
Pedigree – family tree, describes inheritance of a
trait across generations
Recessively Inherited Disorders
Recessive Disorders – show up in individuals
homozygous for the allele (mostly are born to
carrier parents), only show up in homozygous
recessive (pp)
Carriers – heterozygous who carry recessive allele,
phenotypically normal (Pp)
Normal – no recessive trait (PP)
1. Albinism – lack of pigmentation in skin/hair
*if recessive allele that causes disease is rare, it is
unlikely that 2 carriers will meet and mate*
Consanguineous Matings – between relatives,
increase chance that both parents carry same rare
allele
2. Cystic Fibrosis – most common lethal
disease in US, defective/absent chloride
transport in plasma membrane > buildup of
chloride ions outside cell
3. Sickle-Cell Disease – African-American
disease, substitution of single amino acid in
hemoglobin protein in RBC (all hemoglobin
is abnormal in homozygous)
Dominantly Inherited Disorders
Dominant Disorders – rare and arise from
mutation, only show up in homozygous dominant or
heterozygous (PP or Pp), no carrier
Normal – no dominant trait (pp)
1. Achondroplasia – dwarfism caused by a
rare dominant allele
2. Huntington’s Disease – degenerative
disease of nervous system, no obvious
phenotypic effects until 35-40 years old
*once deterioration of nervous system begins,
condition is irreversible and fatal/deadly*
Multifactorial Disorders – genetic and
environmental components, lifestyle has
tremendous effect on phenotype no matter what our
genotype is [heart disease, cancer, alcoholism,
mental illnesses]
Types of Testcross Products
Genotype – genetic component [2 heterozygous, 2
homozygous dominant, 2 homozygous recessive]
Genotypic Ratio – ratio of genotype [1:1, 100% if
all is the same because there is no 4:0]
Phenotype – appearance/description [2 tall, 2 short]
Phenotypic Ratio – ratio of phenotype [1:1, 100%
if all is the same because there is no 4:0]
Probability – percentage [50% heterozygous, 50%
homozygous dominant]
Identifying Monohybrid
 Cross 2 parents using monohybrid cross (F1)
Identifying Dihybrid
 Cross 2 parents first using dihybrid cross
(distribute each traits) (F1)
 Cross the F1 dihybrids using dihybrid cross
*if parents are both homozygous dominant and
recessive, 100% chance of heterozygous*
*if parents are both heterozygous, 100% chance
that genotypic and phenotypic ratio is the same
(9:3:3:1)*
Jan Pauline B. Babina, 11 – STEM 01
2