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Ghoko

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Comprehensive Genetics Notes and

Questions: Grade 12 Life Sciences

Based on Kevinmathscience Tutorials

1 Introduction

These notes consolidate key genetics topics from six Grade 12 Life Sciences tuto-
rials, covering general genetics, monohybrid and dihybrid crosses, genetic mu-
tations, blood groups, pedigree analysis, DNA structure, protein synthesis, sex
determination, and sex-linked characteristics. The content is aligned with the
South African CAPS curriculum. Possible exam questions are included for exam
preparation.

2 General Genetics and Evolution

2.1 Mendel’s Laws

• Law of Segregation: Each individual has two alleles for a trait; these seg-
regate into gametes, with each gamete carrying one allele.
• Law of Independent Assortment: Genes for different traits assort inde-
pendently during gamete formation (if on different chromosomes).

2.2 Evolution

• Natural Selection: Favorable traits improve survival and reproduction,


passing to offspring (e.g., peppered moths).
• Speciation: New species form via reproductive isolation (e.g., allopatric
speciation in Galápagos finches).

3 Monohybrid and Dihybrid Crosses

3.1 Monohybrid Cross

Tracks one trait (e.g., height: T /tall, t/short).


• Cross: T t × T t.

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• Punnett Square:
T t
T TT Tt
t T t tt

• Ratios: 3:1 (tall:short), 1:2:1 (T T :T t:tt).

3.2 Dihybrid Cross

Tracks two traits (e.g., seed color: Y /yellow, y/green; shape: R/round, r/wrinkled).
• Cross: Y yRr × Y yRr.
• Gametes: Y R, Y r, yR, yr.
• Ratio: 9:3:3:1 (yellow round:yellow wrinkled:green round:green wrinkled).

3.3 Non-Mendelian Inheritance

• Co-dominance: Both alleles expressed (e.g., AB blood type).


• Incomplete dominance: Intermediate phenotype (e.g., pink snapdragons).
• Multiple alleles: More than two alleles (e.g., ABO blood groups).

4 Genetic Mutations

4.1 Types

• Gene Mutations:
– Point: Silent, missense (e.g., sickle-cell anemia), nonsense.
– Frameshift: Insertion/deletion shifts reading frame.
• Chromosomal Mutations: Deletion, duplication, inversion, translocation,
aneuploidy (e.g., Down syndrome).

4.2 Causes and Effects

• Causes: Spontaneous (replication errors) or induced (mutagens: UV light,


chemicals).
• Effects: Neutral, beneficial (e.g., lactase persistence), harmful (e.g., cystic
fibrosis).

5 Blood Groups

5.1 ABO System

• Alleles: I A , I B (co-dominant), i (recessive).

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• Phenotypes: A (I A I A , I A i), B (I B I B , I B i), AB (I A I B ), O (ii).

5.2 Rh System

• Alleles: R (dominant, Rh+), r (recessive, Rh-).


• Significance: Transfusions (O- universal donor); Rh incompatibility in preg-
nancy.

6 Pedigree Analysis

6.1 Symbols

• Square: Male; Circle: Female.


• Filled: Affected; Half-filled: Carrier.

6.2 Patterns

• Autosomal dominant: Every generation (e.g., Huntington’s).


• Autosomal recessive: Skips generations (e.g., albinism).
• X-linked recessive: More males affected (e.g., hemophilia).

7 DNA Structure and Protein Synthesis

7.1 DNA Structure

• Double helix of nucleotides (deoxyribose, phosphate, A/T/C/G).


• Base pairing: A-T, C-G.
• Replication: Helicase unzips, DNA polymerase adds nucleotides.

7.2 Protein Synthesis

• Transcription: Nucleus; RNA polymerase forms mRNA from DNA.


• Translation: Cytoplasm; ribosomes read mRNA, tRNA delivers amino acids.

8 Sex Determination and Sex-Linked Characteristics

8.1 Sex Determination

• Humans: XX (female), XY (male); sperm (X/Y) determines sex.


• SRY gene (Y chromosome): Triggers male development.

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8.2 X-Linked Traits

• Traits on X chromosome (e.g., hemophilia, X h recessive).


• Males (X h Y ): Express recessive traits; Females (X h X h ): Rare.
• Example Cross: Carrier female (X H X h ) × normal male (X H Y ):

XH Xh
H H H
X X X XHXh
Y XHY X hY

• 50% chance of affected son.

9 Possible Exam Questions

9.1 Multiple-Choice Questions

1. A cross between T t × T t yields a phenotypic ratio of:


a) 1:1
b) 3:1
c) 9:3:3:1
d) 1:2:1
Answer: b) 3:1
2. A mutation causing a premature stop codon is:
a) Silent
b) Missense
c) Nonsense
d) Frameshift
Answer: c) Nonsense
3. The universal donor blood type is:
a) A+
b) O-
c) AB+
d) B-
Answer: b) O-
4. Translation occurs in the:
a) Nucleus
b) Cytoplasm

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c) Mitochondria
d) Golgi apparatus
Answer: b) Cytoplasm
5. An X-linked recessive trait is most likely expressed in:
a) Females with one recessive allele
b) Males with one recessive allele
c) Females with two recessive alleles
d) Both equally
Answer: b) Males with one recessive allele

9.2 Short-Answer Questions

1. Explain the difference between co-dominance and incomplete dominance,


using examples. Answer: Co-dominance: Both alleles fully expressed (e.g.,
AB blood type, I A I B , shows A and B antigens). Incomplete dominance: In-
termediate phenotype (e.g., pink snapdragons, Rr, from red and white par-
ents).
2. Describe how a frameshift mutation affects protein synthesis. Answer: A
frameshift mutation inserts/deletes nucleotides not in multiples of three,
shifting the mRNA reading frame, altering all downstream codons, and pro-
ducing a non-functional protein.
3. In a pedigree, how can you identify an autosomal recessive trait? Answer:
An autosomal recessive trait skips generations, affects individuals with un-
affected parents (carriers, Aa), and appears in offspring of carrier or af-
fected parents (e.g., Aa × Aa yields 25% aa).
4. Outline the role of tRNA in translation. Answer: tRNA transports specific
amino acids to the ribosome, with its anticodon pairing to mRNA’s codon,
ensuring the correct amino acid is added to the polypeptide chain.
5. Calculate the probability of a son having hemophilia from a carrier mother
(X H X h ) and normal father (X H Y ). Answer: Punnett square shows 50% X h Y
(hemophilia) for sons. Probability = 50%.

9.3 Essay Questions

1. Discuss how genetic mutations contribute to evolution, with examples of


beneficial and harmful mutations. Answer: Mutations introduce genetic
variation, the raw material for evolution. Beneficial mutations, like lactase
persistence, enhance survival and spread via natural selection. Harmful
mutations, like sickle-cell anemia, may reduce fitness but persist if carriers
have advantages (e.g., malaria resistance). Neutral mutations accumulate,
contributing to diversity.

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2. Explain the processes of transcription and translation in protein synthesis,
highlighting their significance in heredity. Answer: Transcription (nucleus)
involves RNA polymerase copying DNA into mRNA. Translation (cytoplasm)
uses ribosomes to read mRNA codons, with tRNA delivering amino acids to
form proteins. This expresses genetic information, producing proteins for
traits, ensuring heredity.
3. Describe the inheritance of ABO blood groups and X-linked traits, compar-
ing their patterns and medical implications. Answer: ABO blood groups
involve multiple alleles (I A , I B , i), with I A and I B co-dominant, affecting
transfusions (O- universal donor). X-linked traits (e.g., hemophilia, X h ) are
recessive, affecting males more, requiring treatments like clotting factor
replacement. Both involve non-Mendelian patterns but differ in chromo-
some location and expression.

10 Conclusion

These notes cover essential genetics topics for Grade 12 Life Sciences, including
Mendelian and non-Mendelian inheritance, mutations, blood groups, pedigrees,
DNA, protein synthesis, and sex-linked traits. The questions provided test un-
derstanding and application, preparing students for exams.

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