Biology · Genetics and Evolution · Chapter notes

Principles of Inheritance and Variation · Class 12 NEET Notes

Class 12 notes on Principles of Inheritance and Variation for NEET: Mendel's crosses, the deviations that break the 3:1, linkage, sex determination and pedigrees. Seven diagrams and a quick review.

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In short

Every ratio in this chapter comes from one idea: alleles separate during gamete formation, then recombine at random at fertilisation. The 3:1 and 9:3:3:1 follow directly. When a ratio departs from those, something specific has interfered, and naming that interference is usually the whole question.

Contents
  1. ·How to Read This
  2. 1Mendel and the Pea Plant why the choice of plant mattered
  3. 2The Monohybrid Cross dominance and segregation
  4. 3The Test Cross telling TT from Tt
  5. 4The Dihybrid Cross independent assortment
  6. 5When the Ratio Breaks incomplete dominance to pleiotropy
  7. 6Linkage and Recombination genes that travel together
  8. 7Sex Determination and sex-linked inheritance
  9. 8Pedigrees and Genetic Disorders
  10. 9Quick Review: What NEET Repeats
  11. Principles of Inheritance · Fact Sheet
0

How to Read This

  • This is one of the highest scoring chapters in NEET Biology, and it is almost all reasoning.
  • Learn the logic once and you can derive every ratio, instead of memorising a list of them.
  • Blue marks a defining idea. Red marks a trap.
  • Section 9 gathers what NEET keeps repeating. Read the chapter first, then use it.
Think it through
The single idea behind every ratio here
  • A body has two alleles for each gene, but a gamete carries only one.
  • Which one it carries is decided at random.
  • Fertilisation then pairs two random gametes.
  • Every ratio in this chapter is just the arithmetic of that pairing.
1

Mendel and the Pea Plant

  • Mendel worked on the garden pea, Pisum sativum, for seven years.
  • He chose seven pairs of contrasting characters, each with two clear-cut forms.
  • The pea was a good choice: it is normally self-pollinating, so pure lines are easy to keep.
  • It also has a short life cycle, many offspring, and flowers that can be hand-pollinated.
  • The seven traits he chose happened to be on different chromosomes, or far apart on the same one. Had they been linked, he would not have found independent assortment.
2

The Monohybrid Cross

  • One character, two contrasting forms. Cross a pure tall with a pure dwarf.
  • The F1 generation is all tall. The dwarf trait has vanished, not been destroyed.
  • Self the F1 and the dwarf reappears in a quarter of the F2.
The cross that produced the first two laws. Note the genotype ratio differs from the phenotype ratio.MONOHYBRID CROSS: THE 3 TO 1 THAT STARTED GENETICSTT tall×tt dwarfF1: all Tt, all TALLthe dwarf trait vanishesF1 selfedTtTtTTTtTtttF2 phenotype 3 tall : 1 dwarfF2 genotype 1 : 2 : 1LAW OF DOMINANCEIn a pair of contrasting factors,one expresses itself and theother stays hidden.LAW OF SEGREGATIONThe two alleles separate duringgamete formation, so each gametecarries only ONE of them.
The cross that produced the first two laws. Note the genotype ratio differs from the phenotype ratio.
  • Law of Dominance: of a contrasting pair, one form expresses itself and the other stays hidden.
  • Law of Segregation: the two alleles separate during gamete formation, so each gamete carries only one.
  • Phenotype ratio 3 : 1, but genotype ratio 1 : 2 : 1. Read which one the question wants.
Trap alert
Segregation is the only law with no exception
  • Dominance has plenty of exceptions, as the next sections show.
  • Independent assortment fails whenever genes are linked.
  • Segregation has none, because it follows directly from meiosis: the homologous pair simply must separate.
  • This is a favourite assertion-reason question.
3

The Test Cross

  • A tall plant may be TT or Tt. You cannot tell by looking.
  • So cross it with the recessive parent, tt.
  • The recessive parent contributes only t, so whatever the unknown carries will show.
Cross with the recessive. All tall means TT. Half dwarf means Tt.TEST CROSS: HOW TO TELL TT FROM TttallT?unknown genotype×dwarfttalways recessiveIF ALL OFFSPRING ARE TALLthe parent wasTT, homozygousIF HALF ARE DWARFthe parent wasTt, heterozygousAlways cross with the RECESSIVE parent. That is what makes the hidden allele show.
Cross with the recessive. All tall means TT. Half dwarf means Tt.
Think it through
Test cross against back cross
  • A back cross is a cross with either parent.
  • A test cross is specifically with the recessive parent.
  • So every test cross is a back cross, but not the reverse.
  • In a dihybrid test cross the ratio is 1 : 1 : 1 : 1.
4

The Dihybrid Cross

  • Two characters at once: seed shape and seed colour.
  • Cross round yellow with wrinkled green, and the F1 is all round yellow.
  • The F2 shows four phenotypes, including two combinations neither parent had.
Sixteen boxes, four phenotypes, in the ratio 9 : 3 : 3 : 1.DIHYBRID CROSS: 9 : 3 : 3 : 1RYRyrYryRYRyrYryRRYYRRYyRrYYRrYyRRyYRRyyRryYRryyrRYYrRYyrrYYrrYyrRyYrRyyrryYrryyround yellow 9round green 3wrinkled yellow 3wrinkled green 1LAW OF INDEPENDENT ASSORTMENTWhen two pairs of traits are considered together,each pair assorts INDEPENDENTLY of the other.So new combinations appear in the F2.THE SHORTCUTTreat each trait separately as 3:1,then multiply. (3:1) × (3:1) = 9:3:3:1
Sixteen boxes, four phenotypes, in the ratio 9 : 3 : 3 : 1.
  • Law of Independent Assortment: each pair of traits assorts independently of the other.
  • The quickest route is to treat each trait as its own 3 : 1 and multiply the two.
  • That is why new parental combinations appear in the F2.
5

When the Ratio Breaks

  • Dominance is not always complete, and one gene does not always act alone.
Three ways the simple picture fails. Each has its own signature ratio.WHEN THE RATIO IS NOT 3 TO 1INCOMPLETE DOMINANCE×red × white gives PINKthe hybrid is in betweenF2 is 1 : 2 : 1phenotype matches genotypeSnapdragon, MirabilisCODOMINANCE×BOTH show togetherneither is maskedF2 is 1 : 2 : 1AB blood group is the exampleroan cattle alsoMULTIPLE ALLELESIᵀIᵇithree alleles for one genebut any person has only TWOABO blood groupingIᵀ and Iᵇ are codominant,and both dominate i
Three ways the simple picture fails. Each has its own signature ratio.
  • Incomplete dominance: the hybrid is intermediate. Red and white snapdragon give pink. F2 is 1 : 2 : 1 for both genotype and phenotype.
  • Codominance: both alleles show fully and separately. The AB blood group.
  • Multiple alleles: a gene has more than two alleles in the population, but any individual still carries only two. ABO blood grouping.
  • Pleiotropy: one gene affects several traits. Phenylketonuria and sickle cell anaemia.
  • Polygenic inheritance: several genes control one trait, giving a continuous range. Human skin colour and height.
Trap alert
Incomplete dominance is not codominance
  • In incomplete dominance the hybrid is a blend. Red and white give pink.
  • In codominance both alleles appear fully and separately, side by side.
  • So an AB person has both A and B antigens, not a blend of the two.
  • Both give a 1 : 2 : 1 F2 ratio, which is why the two are so often confused.
6

Linkage and Recombination

  • Genes on the same chromosome do not assort independently.
  • They tend to be inherited together, which is linkage.
  • Morgan showed this in the fruit fly, Drosophila melanogaster.
Crossing over breaks the linked pair and produces recombinants.LINKAGE: GENES ON THE SAME CHROMOSOME TRAVEL TOGETHERAaBbtwo genes, one chromosomethey tend to stay togethercrossing overAbaBrecombinants appearthe pair has been broken upRECOMBINATION FREQUENCYThe FURTHER apart two genes are,the more often they recombine.SO YOU CAN MAP THEMSturtevant used recombinationfrequency to build the first gene map.
Crossing over breaks the linked pair and produces recombinants.
  • Tightly linked genes are close together, so they rarely recombine.
  • Loosely linked genes are further apart, so they recombine more often.
  • Recombination frequency is proportional to distance along the chromosome.
  • Sturtevant used this to build the first genetic map.
7

Sex Determination

  • In humans, females are XX and males are XY.
Every egg carries X. Half the sperm carry X and half carry Y. So the father decides.SEX DETERMINATION: THE FATHER DECIDESXYXXXXXYXXXYfathermother50% girls, 50% boysTHE MOTHERis XX, so every eggcarries an X.THE FATHERis XY, so half his spermcarry X and half carry Y.OTHER SYSTEMSXO in grasshopper:the male is simply XOZZ-ZW in birds:here the FEMALE is ZW,so the mother decidesHoney bee: males arehaploid, from unfertilised eggsSo in humans it is the FATHER, not the mother, who determines the sex of the child.
Every egg carries X. Half the sperm carry X and half carry Y. So the father decides.
  • XX-XY: humans and Drosophila. The male is heterogametic.
  • XX-XO: grasshoppers. The male is simply XO, with no Y at all.
  • ZZ-ZW: birds. Here the FEMALE is ZW, so the mother determines the sex.
  • Haplodiploidy: in honey bees the male is haploid, developing from an unfertilised egg.
Trap alert
Sex-linked inheritance affects males far more
  • A male has only one X, so a single recessive allele on it will show.
  • A female needs two copies before it shows, which is far rarer.
  • So haemophilia and colour blindness are much commoner in males.
  • The allele passes from a carrier mother to her son, never father to son.
8

Pedigrees and Genetic Disorders

  • A pedigree traces a trait through a family, using a standard set of symbols.
Squares are male, circles female, filled means affected. The pattern reveals the mode of inheritance.READING A PEDIGREEnormal malenormal femaleaffected maleaffected femaleone generation of a familyAUTOSOMAL RECESSIVEcan skip generationsaffects both sexes equallyunaffected parents can haveX-LINKED RECESSIVEfar more common in MALESpasses mother to sonhaemophilia, colour blindness
Squares are male, circles female, filled means affected. The pattern reveals the mode of inheritance.
  • Mendelian disorders come from a change in a single gene.
  • Autosomal recessive: sickle cell anaemia, phenylketonuria, thalassemia.
  • Autosomal dominant: Huntington's chorea, myotonic dystrophy.
  • X-linked recessive: haemophilia, colour blindness.
  • Chromosomal disorders come from a change in number or structure.
  • Down syndrome is trisomy of chromosome 21. Klinefelter is XXY. Turner is XO.
Think it through
Sickle cell anaemia, the one to know in detail
  • It is autosomal recessive, and caused by a single base substitution.
  • Glutamic acid at the sixth position of the beta globin chain is replaced by valine.
  • The homozygote is affected. The heterozygote is a carrier and only shows it under low oxygen.
  • Carriers are resistant to malaria, which is why the allele persists.
9

Quick Review: What NEET Repeats

Gathered in one place. Cover the gold band and test yourself.

Mendel and the ratios
ALMOST EVERY YEARRatios

Give the F2 phenotype and genotype ratios of a monohybrid cross.

Phenotype 3 : 1. Genotype 1 : 2 : 1. Questions often ask for the genotype ratio, so read carefully.
ALMOST EVERY YEARLaws

Which of Mendel's laws has no exception, and why?

The law of segregation. It follows directly from meiosis, since homologous chromosomes must separate.
REPEATS OFTENTest cross

How do you find whether a tall plant is TT or Tt?

Cross it with the recessive dwarf. All tall offspring means TT; half dwarf means Tt.
REPEATS OFTENPea plant

Why was the garden pea a good choice for Mendel?

It self-pollinates so pure lines are easy, has a short life cycle, many offspring, and clear contrasting traits.
Deviations from Mendel
ALMOST EVERY YEARCodominance

How does codominance differ from incomplete dominance?

In incomplete dominance the hybrid is a blend, as in pink snapdragon. In codominance both alleles show fully and separately, as in the AB blood group. Both give 1 : 2 : 1.
ALMOST EVERY YEARMultiple alleles

How many alleles control ABO blood group, and how many can one person carry?

Three in the population: Iᵀ, Iᵇ and i. But any one person carries only two.
REPEATS OFTENPleiotropy

Give an example of a single gene affecting several traits.

Phenylketonuria, or sickle cell anaemia. This is pleiotropy.
SEEN SEVERAL TIMESPolygenic

Which human traits show polygenic inheritance?

Skin colour and height. Several genes contribute, giving a continuous range rather than distinct classes.
Linkage, sex and disorders
ALMOST EVERY YEARLinkage

Why do linked genes not assort independently?

They lie on the same chromosome, so they tend to be inherited together. Recombination frequency rises with the distance between them.
ALMOST EVERY YEARSex determination

In humans, which parent determines the sex of the child, and why?

The father. The mother is XX so every egg carries X, while half the father's sperm carry Y.
REPEATS OFTENBirds

In which group does the female determine the sex of the offspring?

Birds, which use the ZZ-ZW system. The female is ZW.
ALMOST EVERY YEARSickle cell

What exactly changes in sickle cell anaemia?

Glutamic acid at the sixth position of the beta globin chain is replaced by valine, from a single base substitution. It is autosomal recessive.
REPEATS OFTENChromosomal

Give the chromosome constitution of Down, Klinefelter and Turner syndrome.

Down is trisomy 21. Klinefelter is XXY. Turner is XO.
SEEN SEVERAL TIMESSex linkage

Why is haemophilia far commoner in males?

A male has only one X, so one recessive allele shows. A female needs two copies.

★ Principles of Inheritance · Fact Sheet

Every rule for revision day.

MONOHYBRID

Phenotype 3 : 1

Genotype 1 : 2 : 1
Test cross gives 1 : 1.

DIHYBRID

F2 is 9 : 3 : 3 : 1

Test cross is 1 : 1 : 1 : 1
Multiply two 3:1 ratios.

MENDEL'S LAWS

Dominance, Segregation,

Independent Assortment.
Only segregation has no exception.

INCOMPLETE DOMINANCE

Hybrid is a BLEND

Snapdragon gives pink
F2 is 1 : 2 : 1.

CODOMINANCE

Both alleles show fully

AB blood group
F2 also 1 : 2 : 1.

ABO GROUPING

Three alleles: Iᵀ, Iᵇ, i

Any person carries only TWO
Iᵀ and Iᵇ codominant.

PLEIOTROPY & POLYGENY

Pleiotropy: one gene, many traits

Polygeny: many genes, one trait
Skin colour and height.

LINKAGE

Same chromosome, travel together

Recombination rises with distance
Morgan, in Drosophila.

SEX DETERMINATION

XX-XY humans, father decides

ZZ-ZW birds, mother decides
XX-XO grasshopper.

SICKLE CELL

Autosomal recessive

Glutamate to VALINE at position 6
Carriers resist malaria.

X-LINKED

Haemophilia, colour blindness

Far commoner in MALES
Carrier mother to son.

CHROMOSOMAL

Down: trisomy 21

Klinefelter: XXY
Turner: XO.

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