PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEWERS | GRADE 12 | REVIEWER HANDOUT

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AUF HONOR CODE

On my honor as an Angelenean, who lives by the core values

of Mabuti, Magaling at May Malasakit sa Kapwa, I hereby pledge
honesty and integrity in all my academic tasks without receiving or
giving unauthorized assistance, thereby observing scholarly and
intellectual standards, rules on proper citation of sources, and
appropriate collection and use of data. So help me God.

REMINDER

This lecture is written for the purpose of guiding Angeleneans

as they prepare for any upcoming activity, quiz, or examination. We
still highly advise everyone to look up and review as well the
sources provided by the school and the teachers to prepare
better on any said assessments. Here’s to evolving through every
challenge—best of luck!

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 0
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

GENERAL BIOLOGY 2
LESSON 1: HEREDITY AND PATTERNS OF INHERITANCE
Fig. 1

OUTLINE

I.​ Introduction
II.​ Foundations of Heredity
III.​ Mendel’s Laws of Inheritance
IV.​ Non-Mendelian Inheritance
V.​ Nature Vs. Nurture
VI.​ Inheritance Patterns in Humans
VII.​ Reading a Pedigree / Pedigree Analysis
VIII.​ How to Read a Pedigree? Fig. 2
IX.​ X-Linked Inheritance
X.​ Chromosomal Abnormalities or Changes

I. INTRODUCTION
A. STINK-FREE GENE
●​ mutated ABCC11 Gene
○​ ABCC11 Gene - secretion of odorants and
their precursors from apocrine sweat glands
(armpits) B. TRAITS
●​ provokes a dry and white earwax phenotype with no ●​ distinguishable characteristics or features that may be
axillary odor. inherited, such as hair color, eye color, blood type, or
●​ the common mutation is a neutral mutation, meaning it susceptibility to certain diseases
doesn’t cause any harmful effects ○​ (e.g., diabetes, depression, obesity, cancer,
●​ predominant among East Asians (80%-95%) etc.)

B. HEREDITY C. GENES
●​ the process of inheritance ●​ coined by Mendel as “factors,”
●​ traits being passed from a generation (parents) to ●​ units in organisms that control the expression of
another (offspring) traits, which are determined by alleles

C. GENETICS D. ALLELE
●​ a branch of science that studies heredity (study of ●​ one or more alternative forms of a gene
heredity)
●​ how traits are passed from one generation to the next, DOMINANT
focusing on the mechanisms of inheritance, variation, and ●​ the allele that masks the recessive allele; always
the role of genes in determining characteristics expressed
○​ B (written using capital letters)
II. FOUNDATIONS OF HEREDITY RECESSIVE
A. GREGOR MENDEL (1822-1884) ●​ the allele that is masked by the dominant allele; only
●​ known as the “Father of Genetics” expressed in the absence of the dominant allele
●​ conducted breeding experiments with the garden pea ○​ b (written using small letters)
●​ formulated three laws of inheritance HOMOZYGOUS
●​ homo - means “the same”
GARDEN PEA (PISUM SATIVUM)
●​ sometimes referred to as true-breeding
●​ Mendel used this plant because: ●​ describes an individual with the same allele of a gene on
●​ it is easy to cultivate both homologous chromosomes
●​ it has a short generation time ○​ BB or bb (same)
●​ can be cross-pollinated by hand
○​ Mendel used a brush for the pollination of
the garden plant/pea
●​ it exhibits clear and distinguishable traits

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 1
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

HETEROZYGOUS ●​ For example, in setup A, a purple flower is used as the

●​ hetero - means “different” male parent, and a white flower is used as the female
●​ sometimes referred to as hybrid parent. In setup B, the purple flower is used as the female
●​ describes an individual with different alleles of a gene parent, and the white flower is used as the male parent.
○​ Bb (one dominant; one recessive) This allows researchers to observe whether the
inheritance pattern is influenced by the sex of the parents.
E. GENOTYPE
●​ the set of alleles present in an individual’s chromosomes ○​ Setup A: Purple flower (male) × White flower
●​ represents the organism’s genetic makeup (female).
○​ (e.g., B - black hair (dominant), b - white hair
(recessive) ○​ Setup B: Purple flower (female) × White
○​ ;BB, Bb, or bb). flower (male).

F. PHENOTYPE ●​ Purpose: To determine if inheritance is influenced by

●​ the set of observable physical traits expressed by an the sex of the parent.
organism, determined by its genotype
○​ (e.g., black hair, curly hair, black eyes) P (PARENTAL GENERATION)
Fig. 3
●​ the initial true-breeding plants crossed in Mendel’s
experiments.
○​ BB or bb (homozygous parents)

F1 (FIRST GENERATION OFFSPRING)

●​ first filial generation
●​ the offspring of the parental generation, often showing the
dominant trait in Mendelian experiments.
○​ Bb (heterozygous offsprings) 4:0

F2 (SECOND GENERATION OFFSPRING)

●​ second filial generation
●​ the offspring of the F1 generation,
○​ showing a 3:1 phenotypic ratio for a
G. BREEDING single-gene Mendelian trait. (3 purples, 1
●​ the process of mating or cross-pollinating organisms white)
to produce offspring ○​ 1:2:1 genotypic ratio (1 BB, 2 Bb, 1 bb)
●​ used to study inheritance patterns by controlling which
organisms mate to observe the transmission of specific J. TEST CROSS
traits
●​ an experimental cross of an organism with a dominant
phenotype but with an unknown genotype and
TRUE-BREEDING ●​ an organism with a homozygous recessive genotype
●​ parents with certain traits consistently pass those traits and phenotype
to every offspring (homozygous) ●​ also known as a back cross
●​ all offspring have the same traits as the parents,
generation after generation MONOHYBRID CROSS
○​ for example, all offspring of pea plants that
●​ a cross between individuals that differ in only one trait
are true-bred for white flowers will also have
white flowers Fig. 5

H. PUNNETT SQUARE
●​ square diagram used in genetics to predict the possible
genetic outcomes of a cross breeding experiment
●​ helps to determine the probability of inheriting
particular traits based on the genotype of the parents

Fig. 4

EXAMPLE 1
●​ A = Normal, a = albinism
●​ Parents = Aa
●​ Find the genotype, phenotype, and their ratio
I. RECIPROCAL CROSSES
●​ a pair of breeding experiments performed to test the role
of parental sex in inheritance. In this process, the sexes of
the individuals in the parental generation are reversed in
two separate setups.

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 2
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

C. LAW OF INDEPENDENT ASSORTMENT

●​ an allele received for one gene does not influence the
allele received for another gene.
○​ for example, the hair color of the parents
affect the offspring’s hair color, but not eye or
skin color

DIHYBRID CROSS
●​ a cross between heterozygous alleles of 2 genes

Fig. 6 Fig. 8​

●​ Genotype:
○​ ¼ heterozygous normal, 2/4 or ½
heterozygous normal, ¼ homozygous
affected
●​ Phenotype:
○​ ¼ normal, 2/4 or ½ carrier, ¼ albino
○​ ¾ normal, ¼ albino

●​ Ratio (both genotype and phenotype):

○​ 1:2:1
○​ 3:1 (phenotype)
IV. NON-MENDELIAN INHERITANCE
●​ the pattern of inheritance that does not follow Mendel’s
EXAMPLE 2 laws
●​ W= Wire-haired, w = smooth-haired
●​ Parents = WW (male); ww (female) A. INCOMPLETE DOMINANCE
●​ Find the genotype, phenotype, and their ratios. ●​ one allele is not fully dominant over the other
●​ heterozygous phenotype is intermediate blend of 2
Fig. 7 homozygous phenotypes
○​ for example, if a homozygous white
snapdragon plant is crossed with a
homozygous red plant, they will have a pink
offspring.

B. CODOMINANCE
●​ 2 alleles are simultaneously expressed
●​ neither allele is dominant nor recessive
○​ for example, in some chicken, the alleles for
black feathers are codominant with alleles
●​ Genotype: for white feathers. If a black chicken is
○​ 4/4 heterozygous crossed with a white chicken, their offspring
will have both black and white feathers.
●​ Phenotype: ○​ animals: roans and speckled chickens
○​ 4/4 wire-haired
Codominance — multiple alleles
●​ Ratio (both genotype and phenotype): ●​ some populations have 3 or more types of alleles of a
○​ 4:0 given gene (example: blood type AB)
○​ A - AA/AO = TYPE A
○​ B - BB/BO = TYPE B
○​ AB = TYPE AB
III. MENDEL’S LAWS OF INHERITANCE
○​ OO = TYPE O
●​ proposed by Gregor Mendel after his experiments on pea
plants for seven years
C. PLEIOTROPY
●​ a single gene affects multiple traits
A. LAW OF DOMINANCE
●​ one gene, many features
●​ in a heterozygous condition, dominant alleles/characters
are ALWAYS expressed
Examples:
a.​ Marfan Syndrome (defective connective tissue):
B. LAW OF SEGREGATION a mutation in the gene for fibrillin leads to various
●​ when 2 traits come together in one hybrid pair, they do physical symptoms: very tall height, thin fingers,
not mix. heart problems (“leaky heart”), and dislocation of lens
●​ in the production of gametes, 2 copies of each factor i.​ the gene, fibrillin — makes up the elastic
segregate so that offspring acquire one factor from each tissue of the heart, skin, blood, vessels,
parent. tendons, etc.

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 3
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

b.​ Sickle Cell Anemia ○​ 1st - 22nd Pair: autosomes (body

gene mutation that results in sickle-shaped red blood chromosomes)
cells and leads to other affected traits ○​ 23rd pair: sex chromosomes
■​ XX - Female
D. POLYGENIC INHERITANCE ■​ XY - Male
●​ “qualitative inheritance” or “multifactorial inheritance” VII. READING A PEDIGREE/PEDIGREE ANALYSIS
●​ multiple genes control the phenotype of an organism ●​ Pedigree — allows geneticists to estimate the probability
(opposite of pleiotropy) that a phenotype will reappear in future generations; it
●​ alleles of 2 or more genes collectively affect a single also reveals whether a trait is associated with a dominant
trait or recessive allele and whether it is on an autosome or
●​ many genes, one feature sex chromosome
○​ phenotypes of traits can be height, skin color ○​ used to analyze the pattern of inheritance of
(169 genes will dictate skin color), eye a particular trait throughout a family
color, etc.
Fig. 9​
●​ results in a bell curve (most in the middle [heterozygous], Pedigree Symbols
and very few in the extremes [homozygous])

E. LETHAL ALLELES
●​ phenotypic manifestation of some genes is the death of
the individual organisms prior to sexual maturity
●​ presence of 2 homozygous alleles is fatal
●​ if heterozygous, it’s either 1 of 2 cases:
○​ heterozygous and normal
○​ heterozygous and exhibits a distinctive
feature/phenotype
■​ ex.: achondroplasia - dwarfism

DOMINANT LETHAL ALLELES

●​ AA = Death
●​ Aa = Symptoms
●​ aa = Normal

RECESSIVE LETHAL ALLELES (consanguineous marriage is marriage between relatives)

●​ AA = Normal
●​ Aa = Carrier, No symptoms VIII. HOW TO READ A PEDIGREE?
●​ aa = Death
1)​ Determine whether the trait is DOMINANT or
F.. EPISTASIS RECESSIVE.
●​ 2 or more genes contribute to a phenotype; the
phenotype of 1 gene is altered by the presence of DOMINANT
another. ●​ one of the parents should be affected
●​ covers existing gene ●​ trait should not skip a generation
○​ Example: the MC1R gene causes red hair,
but if there is interference from an extension
RECESSIVE
gene, it alters the supposed phenotype from
red hair to blond hair. ●​ neither parent is required to have the trait since they
can be HETEROZYGOUS
V. NATURE VS NURTURE
●​ The environment affects the expression of a gene, which 2)​ Determine whether it is X-linked or
affects the phenotype (including behavioral traits) autosomal.
●​ Nature — genotype; Nurture — environment.
●​ genotype + environment = phenotype X-LINKED
○​ ex.: water fleas being red in color in a ●​ patterns in sex
polluted environment ○​ DOMINANT: TRAITS: affected fathers pass
the trait to all their daughters; no carriers
VI. INHERITANCE PATTERNS IN HUMANS ○​ RECESSIVE TRAITS: males are more
●​ inheritance patterns in humans include the following: commonly affected (mothers pass down to
○​ Autosomal Dominant their sons)
○​ Autosomal Recessive AUTOSOMAL
○​ X-Linked Dominant ●​ both male and females are equally likely to be affected
○​ X-Linked Recessive (usually in equal proportions)
A. TAKE NOTE
●​ Humans have 46 chromosomes, inherited as 23 from the
father and 23 from the mother, organized into 23 pairs.
B. TRAITS

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 4
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

A. AUTOSOMAL DOMINANT ALBINISM

●​ location of gene: autosomes or non-sex chromosomes ●​ abnormally low levels of melanin
●​ a single copy of the mutated gene (from one parent) is ●​ skin, hair, or eye pigmentation may be reduced or missing
enough to cause the disorder.
●​ affected sex: both male and female TAY-SACHS DISEASE
Fig. 10 ●​ absence of an enzyme that helps break down fatty
substances
●​ fatty substance build up to toxic levels in the brain and
spinal cord and affect the function of the nerve cells
●​ mutation in chromosome 15

IX. X-LINKED INHERITANCE

●​ genes located on the X chromosome can be inherited in
either a dominant or recessive manner
●​ since MALES only have one X chromosome (XY), any
mutated gene on the X chromosome—dominant or
recessive—will result in disease
●​ Fathers can pass x-linked traits ONLY to their daughters
(as sons only get the Y chromosome from their fathers).
●​ In contrast, mothers pass x-linked genes to their sons

Fig. 12

ACHONDROPLASIA
●​ example of lethal alleles (non-mendelian inheritance)
●​ a form of hereditary dwarfism
●​ mutation in gene for growth factor
●​ affected have unusually short stature, with arms and legs
relative to the torso size

HUTCHINSON-GILFORD PROGERIA
●​ symptoms: dramatic, rapid appearance of aging beginning
in childhood
●​ usually die of heart attack at young age due to hardening A. X-LINKED DOMINANT
of arteries or atherosclerosis ●​ a mutation in 1 copy of an x-linked gene will result in
disease for both males and females.
HUNTINGTON’S DISEASE ●​ if the mother is affected, both males and females are
●​ an inherited disorder that causes nerve cells (neurons) to affected in the generation.
gradually break down and die ●​ if the father is affected, females are more frequently
●​ the disease attacks areas of the brain that help to control affected; no sons will be affected.
voluntary movement, as well as other areas
Fig. 13
B. AUTOSOMAL RECESSIVE
●​ two copies of the mutated gene (from both parents) will
cause the disorder
●​ affected sex: both male and female
○​ heterozygous individuals are called
“carriers” because they have the allele but
not the trait

Fig. 11

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 5
PROJECT: P – TER (PRODUCTIVITY – TARGETED EXTENSIVE REVIEW) | GRADE 11 | LECTURE HANDOUT
SENIOR HIGHSCHOOL | AUF-IS | Made by : Dizon, C.A. & Santos, G.C. | Notes from Dizon, C.A., Pamintuan, P.E. & Santos, G.C. | Handout

RETT SYNDROME X. CHROMOSOMAL ABNORMALITIES OR CHANGES

●​ becomes apparent after 6-18 months in females A. POLYPLOIDY
●​ symptoms: disability in language and coordination ●​ species with three or more sets of chromosomes
●​ affected people usually show slower growth, difficulty in ●​ common in plants, insects, and other animals, but not
walking, and smaller brain size than normal human
●​ affected males usually die shortly after birth
○​ most cases arise due to new mutations on B. ANEUPLOIDY
the X chromosome. ●​ too many or too few copies of a particular chromosome
●​ usually outcome of nondisjunction, feature of
FRAGILE X SYNDROME chromosomes to separate during meiosis
●​ symptom: developmental problems — learning
disabilities and cognitive impairment PATAU SYNDROME (TRISOMY 13)
●​ anxiety and hyperactive behavior such as fidgeting or ●​ caused by the presence of an extra copy of chromosome
impulsive actions 13
●​ usually, males are more severely affected by this ●​ disrupts normal development, leading to severe
disorder than females intellectual disabilities, physical abnormalities, and often
life-threatening health issues
B. X-LINKED RECESSIVE ●​ characterized by severe physical and intellectual
●​ most often occur in males (one X chromosome) abnormalities, including
●​ a single recessive gene on that X chromosome will cause ○​ cleft lip or palate, extra fingers or toes
the disease in males (polydactyly), heart defects, severe brain
●​ females (XX) must inherit the recessive allele on both abnormalities, low birth weight, and small or
X chromosome to have the disease poorly developed eyes (microphthalmia)
●​ families with an x-linked recessive disorder often have ●​ due to the severity of these complications, most infants do
affected males, but rarely affected females, in each not survive beyond their first year
generation
DOWN SYNDROME (TRISOMY 21)
Fig. 14
●​ due to an extra copy of chromosome 21
●​ affected have some degree of mental retardation, some
impairment of physical growth, and a specific facial
appearance

KLINEFELTER SYNDROME
●​ males have an extra X chromosome (47, XXY)
●​ this inhibits growth of genitalia, hormone production, and
fertility

TURNER SYNDROME
●​ females have a missing X chromosome (45, XO)
●​ causes symptoms like short height, failure of ovary
development, and heart defects

The following information on this handout is referred

from the recommended references and textbooks.
Please review them as well.
Thank you, and good luck! Let your traits shine!
DUCHENNE MUSCULAR DYSTROPHY (DMD)
●​ mutation in the dystrophia gene lead to progressive
muscle fiber degeneration and weakness
●​ primarily affect males, symptoms begin around the age of
4 and progress very quickly

RED-GREEN COLOR BLINDNESS

●​ most common color deficiency
●​ an individual can’t see shades red and green the same
way as people with normal color perception do

HEMOPHILIA
●​ blood does not clot properly
●​ mutations in the clotting factors genes

COLLATED BY: (DIZON, C.A., SANTOS, G.C.) // PREPARED BY: (MS. NUGUID, MS. MALLARI) TEMPLATE BY: SHS Council and BOGNOT, P.N. 6