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Introduction

●​ Mendel's work and that of his followers provided an understanding of inheritance

patterns.
●​ However, the nature of the 'factors' determining phenotype was unclear.
●​ Understanding the structure of genetic material and the basis of genotype-phenotype
conversion became a major focus in biology.
●​ This led to the development of molecular biology, with contributions from Watson, Crick,
Nirenberg, Khorana, the Kornbergs, Benzer, Monod, Brenner, etc..
●​ The mechanism of evolution was a parallel problem being addressed.
●​ Advances in molecular genetics, structural biology, and bioinformatics have enhanced
our understanding of the molecular basis of evolution.
●​ This unit examines the structure and function of DNA and the story and theory of
evolution.
●​ Chapters cover Principles of Inheritance and Variation (Chapter 4), Molecular Basis of
Inheritance (Chapter 5), and Evolution (Chapter 6).

James Watson and Francis Crick

●​ James Dewey Watson (born April 6, 1928) received a B.Sc. in Zoology in 1947 and a
Ph.D. in Zoology in 1950 for studying the effect of hard X-rays on bacteriophage
multiplication.
●​ His interest shifted from bird-watching to genetics.
●​ He met Crick, and they shared an interest in solving the structure of DNA.
●​ Their first attempt was unsuccessful.
●​ Their second effort, based on more experimental evidence and nucleic acid literature,
resulted in the proposal of the complementary double-helical configuration in early March
1953.
●​ Francis Harry Compton Crick (born June 8, 1916) obtained a B.Sc. in physics in 1937
and a Ph.D. in 1954 on X-ray Diffraction of Polypeptides and Proteins.
●​ His friendship with the younger Watson was a critical influence, leading to the 1953 DNA
structure proposal and replication scheme.
●​ Crick was made an F.R.S. in 1959.
●​ Honours to Watson and Crick include the John Collins Warren Prize (1959), Lasker
Award (1960), Research Corporation Prize (1962), and the Nobel Prize (1962).

Chapter 4: Principles of Inheritance and Variation

●​ Genetics is the branch of biology dealing with inheritance and variation of characters
from parents to offspring.
●​ Inheritance is the process of passing characters from parent to progeny and is the basis
of heredity.
 ●​ Variation is the degree by which progeny differ from their parents.
●​ Humans have known since 8000-1000 B.C. that sexual reproduction causes variation
and used selective breeding for desirable traits.
●​ Artificial selection and domestication, e.g., Sahiwal cows from wild cows, demonstrate
the application of this knowledge.
●​ However, ancestors had little scientific understanding of the basis of inheritance and
variation.

4.1 Mendel’s Laws of Inheritance

●​ Gregor Mendel conducted hybridization experiments on garden peas for seven years
(1856-1863).
●​ He proposed the laws of inheritance in living organisms.
●​ Mendel was the first to apply statistical analysis and mathematical logic to biological
problems.
●​ His experiments had a large sample size, increasing the credibility of his data.
●​ Confirmation of his inferences in successive generations supported the generality of his
rules.
●​ Mendel studied characters with two opposing traits (e.g., tall/dwarf, yellow/green seeds).
●​ This allowed him to establish a basic framework of inheritance rules, later expanded by
others.
●​ Mendel used artificial pollination/cross-pollination with true-breeding pea lines.
●​ A true-breeding line shows stable trait inheritance and expression after continuous
self-pollination.
●​ Mendel selected 14 true-breeding pea plant varieties with contrasting traits (e.g.,
smooth/wrinkled seeds, yellow/green seeds, inflated/constricted pods, tall/dwarf plants).

4.2 Inheritance of One Gene

●​ Mendel crossed tall and dwarf pea plants to study the inheritance of one gene
(monohybrid cross).
●​ The first hybrid generation (F₁) progeny were all tall, resembling one parent.
●​ The dwarf trait did not appear in the F₁ generation.
●​ Self-pollination of the tall F₁ plants resulted in some dwarf offspring (1/4th) in the Filial 2
(F₂) generation, with 3/4th being tall.
●​ The tall and dwarf traits in the F₂ were identical to the parental types, showing no
blending.
●​ Similar 3:1 ratios in F₂ were observed for other traits, with no blending in F₁ or F₂.
●​ Mendel proposed that 'factors' (now called genes) were stably passed down unchanged
through gametes.
●​ Genes are the units of inheritance and contain information for expressing a trait.
●​ Genes coding for contrasting traits are alleles (slightly different forms of the same gene).
●​ Alphabetical symbols are used for genes, with capital letters for dominant traits
(expressed in F₁) and lowercase for recessive traits.
●​ For height, T (tall) and t (dwarf) are alleles.
 ●​ Homozygous individuals have identical alleles (TT or tt), while heterozygous individuals
have dissimilar alleles (Tt).
●​ TT and tt represent the genotype, while tall and dwarf are the phenotype.
●​ The phenotype of the heterozygous Tt plant was tall, leading to the concept of
dominance.
●​ In a pair of dissimilar factors, one (dominant) masks the expression of the other
(recessive).
●​ T (tall) is dominant over t (dwarf).
●​ It's important to use consistent symbols (e.g., T and t, not T and d) to avoid confusion
about allelic relationships.
●​ Since the Tt plant is heterozygous for one character, the TT x tt cross is a monohybrid
cross.
●​ The reappearance of the recessive trait in F₂ without blending suggests that alleles
segregate during gamete formation (meiosis), with each gamete receiving only one
allele.
●​ Segregation of alleles is random, with a 50% chance for each allele in a gamete.
●​ Tall (TT) plants produce gametes with allele T, and dwarf (tt) plants produce gametes
with allele t.
●​ Fertilization unites one allele from each parent (e.g., T from pollen, t from egg), resulting
in heterozygous (Tt) zygotes.
●​ A Punnett Square, developed by Reginald C. Punnett, is a graphical representation to
calculate the probability of offspring genotypes in a genetic cross.
●​ It shows parental gametes on two sides and possible combinations in the squares.
●​ Self-pollination of F₁ (Tt) plants produces gametes T and t in equal proportion.
●​ Random fertilization leads to TT (1/4), Tt (1/2), and tt (1/4) genotypes in the F₂
generation.
●​ The phenotypic ratio in F₂ is 3/4 tall (TT and Tt) : 1/4 dwarf (tt), a 3:1 ratio.
●​ The genotypic ratio in F₂ is 1:2:1 (TT: Tt: tt).
●​ The genotypic ratio can be represented by the binomial expression (1/2T + 1/2t)² = 1/4
TT + 1/2Tt + 1/4 tt.
●​ Self-pollination of dwarf F₂ plants (tt) continued to produce only dwarf plants in
subsequent generations, indicating their homozygous genotype.
●​ The genotype of a tall plant (TT or Tt) cannot be determined solely by its phenotype.
●​ A test cross involves crossing an organism with a dominant phenotype (unknown
genotype) with a recessive parent to determine the genotype of the dominant phenotype
organism.
●​ The progeny of a test cross can reveal the genotype of the tested organism.

4.2.1 Law of Dominance

●​ Based on monohybrid crosses, Mendel proposed the Law of Dominance.

●​ (i) Characters are controlled by discrete units called factors (genes).
●​ (ii) Factors occur in pairs (alleles).
●​ (iii) In a dissimilar pair of factors, one (dominant) dominates the other (recessive).
 ●​ The Law of Dominance explains the expression of only one parental character in F₁ and
both in F₂, as well as the 3:1 phenotypic ratio in F₂.

4.2.2 Law of Segregation

●​ This law is based on the fact that alleles do not blend and both parental characters are
recovered in F₂, even if one wasn't seen in F₁.
●​ During gamete formation, the two alleles of a pair segregate, so each gamete receives
only one allele.
●​ A homozygous parent produces similar gametes, while a heterozygous parent produces
two types of gametes with equal proportions of each allele.

4.2.2.1 Incomplete Dominance

●​ In some cases, the F₁ phenotype is an intermediate between the two parents.

●​ Example: Flower color in snapdragons (Antirrhinum sp.).
●​ Cross between true-breeding red (RR) and white (rr) flowers produces pink (Rr) F₁
offspring.
●​ Self-pollination of F₁ (Rr) results in an F₂ ratio of 1 (RR) Red : 2 (Rr) Pink : 1 (rr) White.
●​ The genotypic ratio (1:2:1) is Mendelian, but the phenotypic ratio is different (1:2:1
instead of 3:1).
●​ In incomplete dominance, the dominant allele (R) is not completely dominant over the
recessive allele (r), allowing the heterozygote (Rr) to express an intermediate phenotype
(pink).
●​ Dominance depends on the gene product and the resulting phenotype.
●​ Genes contain information to express a particular trait.
●​ Diploid organisms have two copies (alleles) of each gene, which may be identical
(homozygous) or different (heterozygous).
●​ Alleles can differ due to changes (mutations) modifying the information they contain.
●​ Consider a gene producing an enzyme.
●​ A normal allele produces a functional enzyme for substrate conversion (S).
●​ A modified allele could produce: (i) normal/less efficient enzyme, (ii) non-functional
enzyme, or (iii) no enzyme.
●​ If the modified allele produces a normal/less efficient enzyme still capable of substrate
conversion, the phenotype remains the same (equivalent alleles).
●​ If the modified allele produces a non-functional or no enzyme, the phenotype may be
affected.
●​ The phenotype then depends on the functioning of the unmodified allele (dominant), and
the modified allele is generally recessive.
●​ The recessive trait is seen when the enzyme is non-functional or absent.

4.2.2.2 Co-dominance

●​ In co-dominance, the F₁ generation resembles both parents.

 ●​ Example: ABO blood grouping in humans, controlled by gene I with three alleles: Iᴬ, Iᴮ,
and i.
●​ Iᴬ and Iᴮ produce slightly different sugar forms on red blood cells, while i produces no
sugar.
●​ Humans are diploid, possessing any two of these three alleles.
●​ Iᴬ and Iᴮ are completely dominant over i (Iᴬi results in blood type A, Iᴮi results in blood
type B).
●​ When both Iᴬ and Iᴮ are present (IᴬIᴮ), both express their respective sugars, resulting in
blood type AB (co-dominance).
●​ There are six possible genotypes and four different phenotypes for ABO blood types.
●​ ABO blood grouping is also an example of multiple alleles (more than two alleles
governing the same character).
●​ Multiple alleles can only be observed in population studies, as an individual can only
possess two alleles.
●​ Pleiotropy: A single gene product may produce more than one effect.
●​ Example: Starch synthesis in pea seeds controlled by one gene with alleles B and b.
●​ BB homozygotes produce large starch grains (round seeds), bb homozygotes produce
smaller starch grains (wrinkled seeds), and Bb heterozygotes produce round seeds (B is
dominant for seed shape) but intermediate-sized starch grains (incomplete dominance
for starch grain size).
●​ Dominance is not an intrinsic property of a gene but depends on the gene product, the
phenotype examined, and whether the gene influences multiple phenotypes.

4.3 Inheritance of Two Genes

●​ Mendel also studied dihybrid crosses, involving pea plants differing in two characters
(e.g., seed color and shape).
●​ Cross between yellow round (RRYY) and green wrinkled (rryy) seeds produced F₁ with
yellow and round seeds (RrYy).
●​ Yellow color (Y) is dominant over green (y), and round shape (R) is dominant over
wrinkled (r).
●​ These dominance relationships were consistent with monohybrid crosses.
●​ Self-hybridization of F₁ (RrYy) resulted in F₂ with a 3:1 ratio for yellow:green and 3:1 for
round:wrinkled, similar to monohybrid crosses.

4.3.1 Law of Independent Assortment

●​ The F₂ phenotypic ratio in the dihybrid cross was 9 round yellow : 3 wrinkled yellow : 3
round green : 1 wrinkled green.
●​ This 9:3:3:1 ratio is a combination of the 3:1 ratios of the individual monohybrid crosses:
(3 Round : 1 Wrinkled) x (3 Yellow : 1 Green).
●​ Based on dihybrid crosses, Mendel proposed the Law of Independent Assortment.
●​ Law of Independent Assortment: When two pairs of traits are combined in a
hybrid, segregation of one pair of characters is independent of the other pair of
characters.
 ●​ The Punnett square can illustrate the independent segregation of two gene pairs during
meiosis and the production of gametes by the F₁ (RrYy) plant.
●​ Segregation of R and r (50% R, 50% r) is independent of the segregation of Y and y
(50% Y, 50% y).
●​ This results in four types of gametes: RY, Ry, rY, and ry, each with a frequency of 25%
(1/4th).
●​ The Punnett square for a dihybrid cross has 16 squares representing the possible
zygote genotypes in F₂.
●​ The F₂ genotypic ratio is not simply 9:3:3:1 and needs to be worked out from the Punnett
square.

4.3.2 Chromosomal Theory of Inheritance

●​ Mendel's work (1865) remained unrecognized until 1900 due to:

○​ Poor communication.
○​ His concept of discrete, non-blending genes was not accepted due to observed
continuous variation.
○​ His mathematical approach to biology was novel and unacceptable to many
biologists.
○​ Lack of physical proof for the existence of genes and their composition.
●​ In 1900, de Vries, Correns, and von Tschermak independently rediscovered Mendel's
results.
●​ Advancements in microscopy allowed scientists to observe chromosome behavior during
cell division.
●​ Chromosomes, nuclear structures that double and divide before cell division, were
discovered.
●​ By 1902, chromosome movement during meiosis was understood.
●​ Walter Sutton and Theodore Boveri noted the parallel behavior of chromosomes and
genes.
●​ They used chromosome movement to explain Mendel's laws.
●​ Chromosomes and genes occur in pairs.
●​ Alleles of a gene pair are located on homologous sites on homologous chromosomes.
●​ During Anaphase I of meiosis, chromosome pairs align independently at the metaphase
plate (independent assortment of chromosomes).
●​ Sutton and Boveri argued that the pairing and separation of chromosomes lead to the
segregation of the genes they carry.
●​ Sutton united chromosomal segregation with Mendelian principles, proposing the
chromosomal theory of inheritance.
●​ Experimental verification by Thomas Hunt Morgan and his colleagues on fruit flies
(Drosophila melanogaster) supported this theory and explained the basis of variation
from sexual reproduction.
●​ Drosophila were suitable due to easy lab growth, short life cycle (2 weeks), large
progeny, distinct sexes, and observable hereditary variations.

4.3.3 Linkage and Recombination

 ●​ Morgan performed dihybrid crosses in Drosophila with sex-linked genes.
●​ Example: Cross between yellow-bodied, white-eyed females and brown-bodied,
red-eyed males.
●​ The F₂ ratio deviated significantly from 9:3:3:1, indicating that the two genes did not
segregate independently.
●​ Morgan knew these genes were on the X chromosome.
●​ Genes on the same chromosome tend to be inherited together (linked), resulting in a
higher proportion of parental gene combinations in the F₂.
●​ Morgan coined the term linkage for the physical association of genes on a chromosome.
●​ Recombination describes the generation of non-parental gene combinations.
●​ Even linked genes showed some recombination, indicating that linkage was not always
complete.
●​ Tightly linked genes (low recombination frequency) and loosely linked genes (high
recombination frequency) were observed.
●​ Example: White and yellow genes (1.3% recombination, tightly linked), white and
miniature wing genes (37.2% recombination, loosely linked).
●​ Alfred Sturtevant, Morgan's student, used recombination frequency between gene pairs
to measure the distance between genes and create genetic maps of chromosomes.
●​ Genetic maps are used as a starting point for whole genome sequencing projects like
the Human Genome Sequencing Project.

4.4 Polygenic Inheritance

●​ Mendel's studies focused on traits with distinct alternate forms.

●​ Many traits show a continuous range of variation (gradient), e.g., human height.
●​ Such traits are typically controlled by three or more genes (polygenic traits) and are
influenced by the environment.
●​ Example: Human skin color, controlled by multiple genes (e.g., three genes A, B, C with
dominant alleles for dark skin and recessive for light skin).
●​ In polygenic inheritance, the phenotype reflects the additive contribution of each allele.
●​ Genotype AABBCC (all dominant) has the darkest skin, aabbcc (all recessive) has the
lightest skin, and intermediate genotypes have intermediate skin colors.

4.5 Pleiotropy

●​ Pleiotropy: A single gene can exhibit multiple phenotypic expressions.

●​ The underlying mechanism often involves the gene's effect on metabolic pathways
contributing to different phenotypes.
●​ Example: Phenylketonuria in humans, caused by a mutation in the gene for
phenylalanine hydroxylase (single gene mutation).
●​ This leads to phenotypic expressions including mental retardation and reduced hair and
skin pigmentation.

4.6 Sex Determination

 ●​ The mechanism of sex determination was initially puzzling.
●​ Early clues came from insect experiments and cytological observations.
●​ Henking (1891) observed a specific nuclear structure (X body) during spermatogenesis
in some insects, present in 50% of sperm.
●​ The X body was later identified as the X-chromosome.
●​ XO type sex determination in many insects: eggs have an X chromosome, some sperm
have X, some do not; XX zygotes (fertilized by X-sperm) develop into females, XO
zygotes (fertilized by sperm lacking X) develop into males.
●​ In XO type, males and females have unequal numbers of chromosomes.
●​ The X-chromosome is a sex chromosome, while others are autosomes.
●​ Grasshopper is an example of XO sex determination (males have one X, females have
two).
●​ XY type sex determination in other insects and mammals (including humans): both
sexes have the same number of chromosomes.
●​ Males have one X and a smaller Y chromosome; females have two X chromosomes.
●​ Both sexes have the same number of autosomes.
●​ Males: autosomes + XY; Females: autosomes + XX.
●​ Humans and Drosophila have XY males and XX females.
●​ XO and XY are examples of male heterogamety (males produce two types of gametes
regarding sex chromosomes).
●​ ZW type sex determination in birds: females produce two types of gametes (Z and W),
males produce one type (ZZ) - female heterogamety.
●​ Females have ZW chromosomes, males have ZZ chromosomes.

4.6.1 Sex Determination in Humans

●​ Humans have XY type sex determination.

●​ 23 pairs of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes.
●​ Females have XX, males have XY.
●​ During spermatogenesis, males produce 50% X-carrying sperm and 50% Y-carrying
sperm.
●​ Females produce only X-carrying ova.
●​ Fertilization by an X-sperm results in a female (XX), and fertilization by a Y-sperm results
in a male (XY).
●​ The genetic makeup of the sperm determines the sex of the child.
●​ Each pregnancy has a 50% probability of a male or female child.
●​ Blaming women for bearing female children is a false notion.

4.6.2 Sex Determination in Honey Bee

●​ Sex determination is based on the number of chromosome sets received.

●​ Females (queen or worker) develop from fertilized eggs (diploid).
●​ Males (drones) develop from unfertilized eggs by parthenogenesis (haploid).
●​ Females are diploid (32 chromosomes), males are haploid (16 chromosomes).
●​ This is haplodiploid sex-determination system.
 ●​ Males produce sperm by mitosis and have no father or sons but have a grandfather and
grandsons.

4.7 Mutation

●​ Mutation: Alteration of DNA sequences resulting in changes in genotype and phenotype.

●​ Besides recombination, mutation is another source of DNA variation.
●​ Loss (deletions) or gain (insertion/duplication) of DNA segments can alter chromosomes,
leading to abnormalities (chromosomal aberrations).
●​ Chromosomal aberrations are common in cancer cells.
●​ Point mutation: Change in a single base pair of DNA, e.g., sickle cell anemia.
●​ Deletions and insertions of base pairs cause frame-shift mutations.
●​ Chemical and physical factors (mutagens) induce mutations, e.g., UV radiation.

4.8 Genetic Disorders

●​ Disorders have long been recognized as heritable.

●​ Pedigree analysis, studying family history of trait inheritance, became important after
Mendel's rediscovery, as controlled crosses are not possible in humans.
●​ Pedigree analysis traces a particular trait in a family tree across generations.
●​ It's a tool in human genetics to trace inheritance of specific traits, abnormalities, or
diseases.
●​ Standard symbols are used in pedigree analysis (Figure 4.13).
●​ Features are controlled by genes on DNA within chromosomes, transmitted across
generations.
●​ Changes or alterations in genetic material are mutations.
●​ Many human disorders are associated with inheritance of altered genes or
chromosomes.
●​ Genetic disorders are broadly classified as Mendelian disorders and Chromosomal
disorders.

4.8.2 Mendelian Disorders

●​ Mainly caused by alteration or mutation in a single gene.

●​ Inherited according to the principles of inheritance.
●​ Pedigree analysis can trace the inheritance pattern.
●​ Common Mendelian disorders: Haemophilia, Cystic fibrosis, Sickle-cell anaemia, Colour
blindness, Phenylketonuria, Thalassemia, etc..
●​ Mendelian disorders can be dominant or recessive, autosomal or sex-linked.
●​ X-linked recessive traits (e.g., haemophilia) are transmitted from carrier females to male
progeny.
●​ Representative pedigrees for dominant and recessive traits are shown (Figure 4.14).
●​ Colour Blindness: Sex-linked recessive disorder due to defect in red or green cones,
causing inability to distinguish red and green.
●​ Caused by mutation in genes on the X chromosome.
 ●​ More common in males (8%) than females (0.4%) due to single X chromosome in males.
●​ A son of a carrier mother has a 50% chance of being colour blind; the mother is usually
not affected due to the dominant normal gene.
●​ A daughter will be colour blind only if her mother is a carrier and her father is colour
blind.
●​ Haemophilia: Sex-linked recessive disease transmitted from unaffected carrier females
to some male progeny.
●​ Affects a protein involved in blood clotting, leading to non-stop bleeding from simple
cuts.
●​ Heterozygous carrier females can transmit the disease to sons.
●​ Females are rarely haemophilic (mother must be a carrier, father must be haemophilic).
●​ Queen Victoria's pedigree shows haemophilic descendants due to her being a carrier.
●​ Sickle-cell anaemia: Autosome-linked recessive trait, expressed in HbSHbS
homozygotes.
●​ Heterozygous HbAHbS individuals are carriers with sickle-cell trait but are apparently
unaffected.
●​ Caused by substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the
beta globin chain of haemoglobin due to a single base substitution (GAG to GUG).
●​ Mutant haemoglobin polymerizes under low oxygen, changing RBC shape to sickle-like
(Figure 4.15).
●​ Phenylketonuria: Autosomal recessive inborn error of metabolism.
●​ Affected individuals lack the enzyme to convert phenylalanine to tyrosine, leading to
phenylalanine accumulation, conversion to phenylpyruvic acid, mental retardation, and
excretion of these metabolites in urine.
●​ Thalassemia: Autosome-linked recessive blood disease with reduced synthesis of one
or more globin chains (alpha or beta) due to mutation or deletion.
●​ Results in abnormal haemoglobin and anaemia.
●​ Classified as alpha-thalassemia (affected alpha globin) or beta-thalassemia (affected
beta globin).
●​ Alpha-thalassemia is controlled by two genes (HBA1, HBA2) on chromosome 16;
severity depends on the number of affected genes.
●​ Beta-thalassemia is controlled by one gene (HBB) on chromosome 11; occurs due to
mutation of one or both genes.
●​ Thalassemia is a quantitative problem (too few globin molecules), while sickle-cell
anaemia is qualitative (incorrectly functioning globin).

4.8.3 Chromosomal Disorders

●​ Caused by absence, excess, or abnormal arrangement of one or more chromosomes.

●​ Aneuploidy: Gain or loss of chromosome(s) due to failure of chromatid segregation
during cell division (e.g., Down's syndrome: trisomy 21; Turner's syndrome: loss of X).
●​ Polyploidy: Increase in a whole set of chromosomes due to failure of cytokinesis after
telophase, common in plants.
●​ Normal human cell: 46 chromosomes (23 pairs - 22 autosomes, 1 sex chromosome
pair).
 ●​ Trisomy: Extra copy of a chromosome; Monosomy: Lack of one chromosome.
●​ These conditions have serious consequences.
●​ Common examples: Down's syndrome, Turner's syndrome, Klinefelter's syndrome.
●​ Down's Syndrome (Trisomy 21): Presence of an extra copy of chromosome 21.
●​ Characterized by short stature, small round head, furrowed tongue, partially open mouth,
broad palm with a characteristic crease, retarded physical, psychomotor, and mental
development (Figure 4.16).
●​ Klinefelter's Syndrome (47, XXY): Presence of an additional X-chromosome.
●​ Individuals have overall masculine development but also feminized features (breast
development - Gynaecomastia) and are sterile (Figure 4.17 a).
●​ Turner's Syndrome (45, X0): Absence of one X chromosome in females.
●​ Females are sterile (rudimentary ovaries) and lack other secondary sexual characters
(short stature, underdeveloped feminine features) (Figure 4.17 b).

Summary

●​ Genetics studies inheritance and its principles.

●​ Mendel's laws (Law of Dominance, Law of Segregation, Law of Independent
Assortment) explain inheritance patterns based on 'factors' (genes) existing as pairs
(alleles).
●​ Dominant alleles mask recessive alleles in heterozygotes.
●​ Alleles segregate during gamete formation.
●​ Not all traits show complete dominance (incomplete dominance, co-dominance).
●​ In dihybrid crosses, factors independently assort.
●​ Punnett square represents gamete combinations.
●​ Genotype (genes) determines phenotype (physical expression).
●​ Chromosomal Theory of Inheritance links Mendel's laws to chromosome behavior during
meiosis.
●​ Linked genes on the same chromosome do not independently assort; linkage maps
show gene arrangement.
●​ Sex-linked genes are linked to sex chromosomes (XX female, XY male in humans; ZZ
male, ZW female in birds).
●​ Mutation is a change in genetic material (point mutation, chromosomal changes like
polyploidy and aneuploidy).
●​ Sickle-cell anemia is an example of a point mutation.
●​ Pedigree analysis studies inheritable mutations in families.
●​ Chromosomal disorders like Down's syndrome (trisomy 21), Turner's syndrome (XO),
and Klinefelter's syndrome (XXY) are due to changes in chromosome number.

Exercises

●​ The exercises at the end list questions related to the concepts covered in the chapter.