Principles of Inheritance and Variation

— Quick Revision (NCERT +2)

1. Mendel's Laws of Inheritance

Mendel worked on garden pea (Pisum sativum) — chose it for

contrasting visible traits, short life cycle, easy to cross/self-
pollinate.

7 contrasting characters: Stem height (tall/dwarf), pod shape

(inflated/constricted), pod colour (green/yellow), seed shape
(round/wrinkled), seed colour (yellow/green), flower colour
(violet/white), flower position (axial/terminal).

Key terms: Factors (now genes), Alleles, Phenotype, Genotype,

Homozygous, Heterozygous, Dominant, Recessive.

Law 1 – Law of Dominance:

Characters controlled by discrete units called factors (genes);

factors occur in pairs (alleles).

In a dissimilar pair (heterozygote), one factor dominates

(expressed), other is recessive (masked).

Explains F1 all showing dominant trait; F2 gives 3:1 phenotypic

ratio.

Law 2 – Law of Segregation:

Alleles do not blend; both factors are transmitted unchanged to

progeny.

Alleles separate (segregate) from each other during gamete

formation — each gamete gets only one allele.
 Based on monohybrid cross (Tt × Tt → 3 Tall : 1 dwarf
phenotypic; 1:2:1 genotypic — TT:Tt:tt). This is a universal law,
no exceptions.

Law 3 – Law of Independent Assortment:

From dihybrid cross (RRYY × rryy → F1 RrYy; F2 = 9:3:3:1).

When two pairs of traits combine in a hybrid, segregation of

one pair is independent of the other.

Genes located on different chromosomes assort independently

(genes on same chromosome close together show linkage —
exception, studied by Morgan).

★ Key Points:

Mendel called his unit factors; Johannsen (1909) coined the

term "gene".

Mendel self-pollinated pea for many generations first to get

pure-breeding (true-breeding) lines.

He used hand pollination/emasculation for artificial cross-

pollination.

F1 = first filial generation; F2 = second filial generation (from

selfing F1).

Mendel's success reasons: chose a single trait at a time, used

statistics/large sample size, kept accurate quantitative records.

Reciprocal cross (TT♂×tt♀ and tt♂×TT♀) gave same result →

proved trait not linked to sex.

Summary Table:
| Law | Based on | Statement (short) |
|---|---|---|
| Law of Dominance | Monohybrid cross | Of a pair of alleles, one
dominant is expressed, other recessive is masked |
| Law of Segregation | Monohybrid cross | Alleles separate during
gamete formation; each gamete gets one allele (universal law) |
| Law of Independent Assortment | Dihybrid cross | Alleles of
different genes (on different chromosomes) assort independently
of each other |

2. Inheritance of One Gene (Monohybrid cross)

Cross TT (tall) × tt (dwarf) → F1 all Tt (tall, dominant

expressed).

F1 selfed (Tt × Tt) → F2 phenotypic ratio 3:1 (3 tall:1 dwarf);

genotypic ratio 1:2:1 (TT:Tt:tt).

Test cross: Cross F1 (unknown genotype, dominant phenotype)

with homozygous recessive parent → reveals genotype. Ratio
1:1 if heterozygous.

Monohybrid Punnett Square

Incomplete Dominance: F1 phenotype is intermediate (neither

parent's trait fully expressed).

E.g., Mirabilis jalapa (4 o'clock plant) / Snapdragon: Red (RR) ×

White (rr) → F1 all Pink (Rr). F2 = 1 Red : 2 Pink : 1 White
(phenotype = genotype ratio, both 1:2:1).

Co-dominance: Both alleles express fully in heterozygote, neither

masks other.

E.g., ABO blood grouping — gene I (isohaemagglutinogen) has

3 alleles: I^A, I^B, i.

I^A and I^B are co-dominant; both dominant over i.

6 genotypes → 4 phenotypes (blood groups A, B, AB, O).

Genotype(s) Blood Group (Phenotype)

I^AI^A, I^Ai A

I^BI^B, I^Bi B
 Genotype(s) Blood Group (Phenotype)

I^AI^B AB (co-dominance)

ii O

Example of multiple allelism (>2 alleles of a gene in population,

but individual has only 2).

Pleiotropy: A single gene affects multiple phenotypic traits. E.g.,

Phenylketonuria (PKU); starch synthesis in pea (also affects seed
shape & size).

★ Key Points:

Incomplete dominance & co-dominance are exceptions to Law

of Dominance, not to segregation.

In ABO system, gene I has 3 alleles but a person carries only 2

(multiple allelism at population level, not individual level).

I^A and I^B alleles produce different sugars (enzymes) on RBC

surface — both get expressed in AB group (true co-dominance
at molecular level).

Test cross ratio 1:1 tells heterozygous; all offspring dominant

phenotype tells homozygous dominant.

Distinguish: Incomplete dominance = blended/intermediate

phenotype; Co-dominance = both traits appear together,
distinctly (not blended).

3. Inheritance of Two Genes (Dihybrid cross)

Cross RRYY (round, yellow) × rryy (wrinkled, green) → F1 = RrYy

(round, yellow).

F1 selfed → F2 phenotypic ratio 9:3:3:1

 9 Round Yellow : 3 Round green : 3 wrinkled Yellow : 1
wrinkled green.

Shows Law of Independent Assortment — genes for seed

shape and seed colour segregate independently since on
different chromosomes.

Punnett square: 16 combinations in F2 (4×4 gametes: RY, Ry, rY,

ry).

Dihybrid Punnett Square

Linkage & Recombination (Morgan's work on Drosophila):

Genes located on the same chromosome tend to be inherited

together = linkage; don't show independent assortment.

Recombination: new combination of alleles due to crossing

over during meiosis (prophase I).

Morgan crossed yellow-bodied white-eyed females × brown-

bodied red-eyed males — found genes for body colour & eye
colour linked (inherited together, low recombination), while
white eye & miniature wing showed high recombination (genes
far apart on chromosome).

Tighter linkage = lower recombination frequency; genes far

apart = higher recombination.

★ Key Points:

Dihybrid F2 combinations (16 boxes) simplify to phenotype

ratio 9:3:3:1 — parental-type combos are the 9 and 1 classes
(most frequent); recombinant classes are the two 3's.

Complete linkage: genes so close they're inherited together

with virtually no recombination (rare).

Incomplete linkage: genes on same chromosome but

recombine sometimes due to crossing over — most common
case.
 Independent assortment law fails for genes on the same
chromosome — this was Morgan's key exception/refinement to
Mendel.

Crossing over occurs during pachytene of prophase I of

meiosis (synapsed homologous chromosomes, chiasmata
formation).

4. Sex Determination

Chromosomal theory (Sutton & Boveri): Chromosomes carry

hereditary info; parallel behaviour of genes & chromosomes during
meiosis.

Types:

Type Female Male Example

XX– XX XY Humans,
XY (homogametic) (heterogametic) Drosophila

XX–
XX XO (one X only) Grasshopper
XO

ZW– ZW ZZ
Birds
ZZ (heterogametic) (homogametic)

Haplo- Diploid Haploid

Honeybee
diploid (fertilized) (unfertilized)

1. XX-XY type (Humans, Drosophila): Female = XX

(homogametic), Male = XY (heterogametic). Male determines
sex of offspring (X or Y sperm).

2. XX-XO type (Grasshopper): Female = XX, Male = XO (only one

X, no second sex chromosome).
 3. ZW-ZZ type (Birds): Female = ZW (heterogametic), Male = ZZ
(homogametic) — opposite of mammals.

4. Haplo-diploid (Honeybee): No sex chromosomes. Fertilized

(diploid, 32 chromosomes) → Female; Unfertilized (haploid, 16,
parthenogenesis) → Male (drones, produce sperm by mitosis).

Human Sex Determination

Human sex determination: 22 pairs autosomes + 1 pair sex

chromosomes (44+XX female, 44+XY male). Father's sperm (X or Y)
determines child's sex; each pregnancy has 50:50 chance.

★ Key Points:

Homogametic sex = produces only one type of gamete (human

female: all eggs carry X).

Heterogametic sex = produces two types of gamete (human

male: X-sperm or Y-sperm).

Y chromosome carries the SRY gene (Sex-determining Region

Y) that triggers male development (mentioned as testis-
determining factor).

In honeybee, males (drones) are haploid and produce sperm by

mitosis (no meiosis, since no homologous pairs to reduce).

Total human chromosome number = 46 (23 pairs): 44

autosomes + 2 sex chromosomes.

5. Mutation

Definition: Sudden heritable change in DNA

sequence/chromosome structure causing phenotypic
variation.

Chromosomal mutations: Due to changes in chromosome

number (aneuploidy, polyploidy) or structure (deletion,
duplication, inversion, translocation).
 Chromosome
Disorder Karyotype Key feature
defect

Short stature,
Down's Trisomy of mental
47 (2n+1)
syndrome chr. 21 retardation,
furrowed tongue

Klinefelter's Extra X in Gynaecomastia,

47, XXY
syndrome male sterile, tall

Sterile,
Turner's Single X in
45, XO rudimentary
syndrome female
ovaries

Point mutation: Change in a single base pair of DNA.

E.g., Sickle cell anaemia — single base substitution

(GAG→GTG) in β-globin gene → glutamic acid replaced by
valine at position 6.

Sickle cell anaemia details: Autosomal recessive, controlled by

allele Hb^A and Hb^S on chromosome 11. Homozygous
(Hb^SHb^S) = disease (elongated sickle-shaped RBC).
Heterozygous (Hb^AHb^S) = carrier, unaffected.

★ Key Points:

Aneuploidy = gain/loss of one or more chromosomes (e.g.,

trisomy 21, XXY, XO) — due to failure of chromosome
segregation (non-disjunction) during meiosis.

Polyploidy = increase in whole sets of chromosomes (common

in plants, evolution driver; e.g. bread wheat is hexaploid).

Down's syndrome (trisomy 21) features: short stature, small

round head, furrowed tongue, partially open mouth, mental
retardation.
 Klinefelter's (XXY) features: male but has gynaecomastia
(breast development), sterile, tall.

Turner's (XO) features: female, sterile, rudimentary ovaries,

lacks secondary sexual characters.

Sickle-shaped RBCs cause clumping → block blood vessels →

oxygen deprivation, especially at low oxygen levels.

Point mutations can also cause insertion/deletion →

frameshift mutation (mentioned in context of DNA changes).

6. Genetic (Mendelian) Disorders in Humans

(Pedigree Analysis)

Pedigree analysis: Study of family history/traits over generations

using symbols (□ male, ○ female, filled = affected, horizontal line =
mating, vertical = offspring). Used when controlled crosses aren't
possible in humans.

Pedigree Symbols

Genetic disorders table:

Disorder Inheritance Defect Key feature

Hb^S allele,
Sickle cell Autosomal Sickle-shaped RBC,
chr 11 (point
anaemia recessive blocks vessels
mutation)

Lacks
Phenylpyruvic acid
Phenylketonuria Autosomal phenylalanine
buildup → mental
(PKU) recessive hydroxylase
retardation
enzyme
 Disorder Inheritance Defect Key feature

Defective
Reduced/abnormal
Autosomal globin chain
Thalassemia haemoglobin,
recessive (α or β)
anaemia
synthesis

Clotting Delayed blood

X-linked
Haemophilia factor VIII clotting ("bleeder's
recessive
deficiency disease")

Colour X-linked Red-green ~8% males, 0.4%

blindness recessive cone defect females affected

A. Autosomal Dominant / Recessive disorders:

Sickle cell anaemia — autosomal recessive (details above).

Phenylketonuria (PKU) — autosomal recessive; deficiency of

enzyme phenylalanine hydroxylase → phenylalanine
accumulates, converted to phenylpyruvic acid → mental
retardation.

Thalassemia — autosomal recessive; defect in synthesis of

globin chains (α or β) of haemoglobin → reduced RBC.

B. Sex-linked disorders (X-linked recessive):

Haemophilia: "Bleeder's disease" — single protein (clotting

factor VIII) defect, delayed blood clotting. X-linked recessive;
carrier females (X^HX^h) transmit to sons (50% chance
affected); seen almost exclusively in males (famously in
European royal families — Queen Victoria).

Colour blindness: X-linked recessive; defect in red-green cone

vision; ~8% males, 0.4% females affected.

★ Key Points:
 Pedigree symbols to remember: square = male, circle = female,
filled shape = affected individual, circle/square with dot inside
= carrier, horizontal line = mating, vertical line down = offspring,
numbers = generations (I, II, III...).

Why X-linked recessive disorders are more common in males:

males have only one X, so a single recessive allele is expressed
(no second X to mask it); females need it on both X's to be
affected.

Carrier female = heterozygous, phenotypically normal but can

pass the allele to sons.

A colour-blind/haemophilic father cannot pass the trait to sons

(sons get Y from father) — but all daughters become carriers.

Genetic disorders broadly classified as: Mendelian disorders

(single gene, e.g. haemophilia, colour blindness, sickle cell,
PKU, thalassemia) vs Chromosomal disorders (chromosome
number/structure change, e.g. Down's, Klinefelter's, Turner's).

Quick-fire Ratios to Remember

Phenotypic ratio
Cross type
(F2)

Monohybrid (complete dominance) 3:1

Monohybrid (incomplete dominance/co-

1:2:1
dominance)

Dihybrid 9:3:3:1

Test cross (monohybrid) 1:1

Test cross (dihybrid, independent) 1:1:1:1

Key People

Mendel — laws of inheritance (pea plant)

Sutton & Boveri — chromosomal theory of inheritance

T.H. Morgan — linkage & recombination (Drosophila)

Bateson & Punnett — coined terms, Punnett square

All the best for your exam!