CHAPTER 5 :PRINCIPLES OF INHERITANS

CHAPTER 5 :PRINCIPLES OF INHERITANS

Mendel’s Laws of Inheritance:

1. Genetics
• The branch of biology, which deals with inheritance and variation of characters from parents to offspring.
2. Inheritance
• The process by which characters or traits are transferred from one generation to the next.
3. Variation
• The degree by which progeny differs from each other and with their parents. Humans knew from as early as
8000-1000 BC, that one of the causes of variation was hidden in sexual reproduction.
4. Gregor Johann Mendel
• for the first time conducted experiments to understand the pattern of inheritance of variation in living beings.
5. Mendel’s Experimental Material
• (i) He conducted experiments on garden pea plant (Pisum sativum) for seven years (1856-1863)
o proposed the laws of inheritance in living organisms.
• (ii) He selected garden pea plant as a sample for experiment because of:
o (a) Easy availability on a large scale.
o (b) Many varieties are available with distinct characteristics.
o (c) They are self-pollinated and can be cross-pollinated easily in case self-pollination does not occur.
• (iii) Mendel selected 14 true-breeding (a breeding line which has undergone continuous self-pollination shows
stable trait inheritance and expression for several generations) pea plant varieties, as pairs, which were similar
except for one character with contrasting traits.
Seven contrasting characters and their traits as taken by Mendel are listed in the table given below:

6. Mendel’s Experimental Procedure
• (i) He observed one trait or character at a time. For example, he crossed tall and dwarf pea plants to study the
inheritance of one gene.
• (ii) Mendel hybridised plants with alternate forms of a single trait (monohybrid cross). The seeds produced by
these crosses were grown to develop into plants of Filial1 progeny or F1-generation.
• (iii) He then self-pollinated the tall F1 plants to produce plants of Filial2 progeny or F2-generation.
• (iv) In later experiments, Mendel also crossed pea plants with two contrasting characters known as dihybrid
cross.
• (v) Mendel self-pollinated the F2 plants also.
7. Mendel’s Observation in his Experiment
• (i) In Frgeneration, Mendel found that all pea plants were tall and none were dwarf.
• (ii) He also observed other pair of traits and found that F1 always resembled either one of its parents and the
traits of the other parent was not found in them.
• (iii) In F2-generation, he found that some of the off springs were dwarf, i.e. the character which were not seen in
F1-generation were expressed in F2-generation.


• (iv) These contrasting traits (tall/dwarf) did not show any mixing either in F1 or in F2-generation.
• (v) Similar results were obtained with the other traits that he studied. Only one of the parental traits was
expressed in F1-generation, while at F2-generation stage, both the traits were expressed in the ratio of 3:1.
• (vi) Mendel also found identical results in dihybrid cross as in monohybrid cross.
• (vii) On self-pollinating F2 plants, he found that dwarf F2 plants continued to generate dwarf plants in F3 and F4-
generations.
8. Inferences of Mendel’s Experiments
• (i) Mendel inferred that something was being passed down, from parents to offspring through the gamete over
successive generations. He called them ‘factors’, now known as genes.
• (ii) Genes are the unit of inheritance. They contain the information required to express a trait.
• (iii) Genes which codes for a pair of contrasting traits are called alleles or allelomorphs, i.e. they are slightly
different forms of the same gene.
• (iv) Mendel also proposed that in a true breeding variety, the allelic pair of genes are identical or homozygous, TT
and tt for tall or dwarf pea variety respectively.
• (v) TT and tt are genotype of the plant.
• (vi) Descriptive term tall and dwarf are the phenotype.
• (vii) When the tall (TT) and dwarf (tt) pea plant produce gametes, the alleles of the parental pair segregate from
each other and only one allele is transmittted to a gamete.
• (viii) The gametes of the tall TT plants have the allele T and the dwarf tt plants have the allele t.
• (ix) This segregation of alleles is a random process and, so there is a 50% chance of a gamete containing either
allele, as verified by the results of crossings. After fertilisation of TT and tt traits, hybrids contain Tt and are called
heterozygous.
• (x) Mendel found the phenotype of Tt to be similar as TT parent in appearance, he proposed that in a pair of
dissimilar factor, one dominates the other (T in this case) and hence, is called the dominant factor, while the other
factor (t) is recessive.
• (xi) Allele can be similar in case of homozygous TT or tt and dissimilar in case of heterozygous Tt.
• (xii) In Tt plant, one character (height) is controlled by a gene hence, it is monohybrid and cross between TT and
tt is called monohybrid cross.
•

10. Mendel’s law of inheritance
• are based on his observations on monohybrid and dihybrid crosses, he proposed three laws:
• (i) Law of dominance (first law)
o States that characters are controlled by genes which occur in pair, when two alternate forms of a trait or
character (genes or alleles) are present in an organism, only one factor (dominant) expresses itself in F1-
generation. While, the other factor (recessive) remains hidden. It explains expression of genes in a cross
and 3:1 ratio obtained in the F2-generation.
• (ii) Law of segregation (second law)
o States that the factors or alleles of a pair segregate from each other during gamete formation, in a way
that a gamete receives only one of the two factors. They do not show any blending.
• (iii) Law of independent assortment (third law)


o It is based on inheritance of two genes, i.e. dihybrid cross which states that when two pairs of contrasting
traits are combined in a hybrid, segregation of one pair of characters is independent of the other pair of
characters. These factors randomly rearrange in the offsprings producing both parental and new
combination of characters. The Punnett square can be used to understand the independent during
meiosis.

11. Incomplete dominance
• a phenomenon in which the F: – hybrid shows characters intermediate of the parental genes. In this process, the
phenotypic ratio of F2-generation deviates from the Mendel’s monohybrid ratio.
• Example, inheritance of flower colour in the dog flower (snapdragon or Antirrhinum sp) and four O’ clock plant
(Mirabilis jalapa).
• In a cross between red flower (RR) and white flower plant (rr), the F1 (Rr) was pink (in figure). When F1 was self-
pollinated, the F2 resulted in the ratio 1: 2: L


12. Codominance
• a phenomenon in which two alleles are able to express themselves independently when present together.
• These alleles are called codominant alleles.
• The offsprings show resemblance to both the parents.
• (i) A common example of codominance is ABO blood groups in humans.
• (ii) The gene for blood group exist in three allelic forms IA , IB and i.
• (iii) IA and IB produce RBC surface antigens A and B, respectively, whereas ‘i’ does not produce any antigen.
• (iv) IA and IB both are dominant alleles, whereas T is the recessive allele.
• (v) In case IA and IB are present together, both express equally and produce both the surface antigens A and B.
•

13. Multiple allelism
• It can also be explained by ABO blood grouping. In this case, more than two, i.e. three alleles are governing the
same character.
• Multiple alleles can be found only when population studies are made since, an individual can have only two alleles.
14. Test cross
• It is a method devised by Mendel to determine the genotype of an organism. A cross is made of unknown
dominant genotype with the recessive parent.
o (i) For example, Fj hybrid (Tt) heterozygous of a pure tall plant (TT) and a pure dwarf plant (tt) is crossed
with a pure dwarf plant.

o In this example, the progeny consists of tall and dwarf plants in the ratio 1:1. Thus, monohybrid test
cross ratio is 1:1.
o (ii) In case of both homozygous parents, i.e. TT, the progeny obtained will have to tall plants. (Tall)

o (iii) In case of dihybrid test cross, where two traits are taken, a heterozygous individual is crossed with a
homozygous recessive parent.

15. Pleiotropy
• It is the phenomenon in which a single gene exhibits multiple phenotypic expressions. A single pleiotropic gene
may produce more than one effect.For example,
• (i) Phenylketonuria, a disorder caused by mutation in the gene coding the enzyme phenylalanine hydroxylase.
The affected individuals show hair and skin pigmentation and mental problems.
• (ii) Starch synthesis in pea seeds is controlled by one gene with two alleles (B and b).
o (a) Starch is synthesised effectively by the homozygotes, BB and hence, the starch grains are large and the
seeds at maturity are round.
o (b) The homozygotes, bb are less efficient in starch synthesis, hence they have small starch grains and the
seeds are wrinkled.
o (c) The heterozygotes, Bb produce round seeds, indicating that B is the dominant allele, but the starch
grains are intermediate in size and hence, for the starch grain size, the alleles show incomplete
dominance.
o (d) It is an example of pleiotropy as the same gene controls two traits, i.e. seed shape and size of starch
grains.
o (e) Here, it is to be mentioned that dominance is not an autonomous feature of the gene or its product, but
it depends on the production of a particular phenotype from the gene product.
16. Polygenic inheritance
• was given by Galton in 1833.
• In this, traits are controlled by three or more genes (multiple genes). These traits are called polygenic traits.
• The phenotype shows participation of each allele and is also influenced by the environment and is called
quantitative inheritance as the character/phenotype can be quantified.
o For example, human skin colour which is caused by a pigment melanin.
§ The quantity of melanin is due to three pairs of polygenes (A, B and C).
§ If it is black or very dark (AA BB CC) and white or very light (aa bb cc) individuals marry each
other, the offspring shows intermediate colour often called mulatto (Aa Bb Cc).
§ A total of eight allele combinations is possible in the gametes forming 27 distinct genotypes.
17. Complementary genes
• Complement the effect of each other to produce a phenotype. For example, in case of sweet pea, the flower colour
is due to complementary genes. Here, one gene complements the expression of another gene.
18. Rediscovery of Mendel’s Laws
• (i) Though, Mendel published his work on inheritance of characters in 1865, it remained unrecognized for several
reasons till 1900. Some of them are as follow:
o Communication was difficult, so his work could not be widely publicised.
o His concept of genes as stable unit that controlled the expression of traits and of the pair of alleles, which
did not blend, was not accepted.
o His approach of using mathematics to explain biological phenomenon was new and unacceptable.
o He could not provide any physical proof for the existence of factors.
• (ii) In 1900, de Vries, Correns and Von Tschermak rediscovered Mendel’s results independently. Due to
microscopy, they carefully observed cell division.
• (iii) This led to discovery of chromosomes (structure in the nucleus that appeared to double and divide just before
each cell division).
19. Chromosomal theory of inheritance
• was proposed independently by Walter Sutton and Theodore Boveri in 1902. They united the knowledge of
chromosomal segregation with Mendelian principles and called it chromosomal theory of inheritance.


• The main points are as follow:
o Gametes (sperm and egg) transmit hereditary characters from one generation to another.
o Nucleus is the site of hereditary characters.
o Chromosomes as well as genes are found in pairs.
o The two alleles of a gene pair are located on homologous sites on the homologous chromosomes.
o The sperm and egg having haploid sets of chromosomes fuse to regain the diploid state.
o Homologous chromosomes synapse during meiosis and get separated to pass into different cells and are
the basis of segregation and independent assortment during meiosis.

20. Experimental verification of the chromosomal theory of inheritance
• was done by Thomas Hunt Morgan and his colleagues.
• (i) Morgan selected fruit fly, Drosophila melanogaster for his experiments because:
o They could be grown on simple artificial medium in the laboratory.
o Their life cycle is only about two weeks.
o A single mating could produce a large number of flies.
o There was a clear differentiation of the sexes, i.e. male (smaller) and female (bigger).
o It has many types of hereditary variation that can be easily seen through low power microscopes.
• (ii) Linkage and Recombination
o The physical association of two genes on a chromosome is called linkage.
o Recombination explains the generation of non-parental gene combinations.
o To explain the phenomena of linkage and recombination, Morgan carried out several dihybrid crosses in
Drosophila to study genes that were sex-linked, i.e. the genes are located on X-chromosome.
o He observed that two genes did not segregate independently of each other.
o He observed that the proportion of parental gene combinations were much higher than the non-parental
type, when two genes in a dihybrid cross were situated on the same chromosome. Morgan concluded this
as a physical association or linkage.
o Morgan and his group also found that even when genes were grouped on the same chromosome, some
genes were very tightly linked (very low recombination), while others were loosely linked (higher
recombination).
o Recombination of linked genes is by crossing over (exchange of corresponding parts between the
chromatids of homologous chromosomes).
•


• Linkage results of two dihybrid crosses conducted by Morgan.
• Cross ‘A’ shows
• crossing between genes y and w. Cross ‘B1 shows crossing between genes w and m.
• Here, dominant wild type alleles are represented with (+) sign.
• (g) Alfred Sturtevant (Morgan’s student) used the frequency of recombination between gene pairs on the same
chromosome as a measure of the distance between genes and ‘mapped’ their position on the chromosome.
o Genetic maps are now used as a starting point in the sequencing of whole genomes as done in case of
Human Genome Sequencing Project.
SEX DETERMINATION
• the cytological observations made in a number of insects led to the development of the concept of
genetic/chromosomal basis of sex-determination.
• Henking (1891) could trace a specific nuclear structure all through spermatogenesis in a few insects
• it was also observed by him that 50 per cent of the sperm received this structure after spermatogenesis, whereas
the other 50 per cent sperm did not receive it.
• Henking gave a name to this structure as the X body
• The rest of the chromosomes were named as autosomes.
• Two types of sex determination mechanism
o Male heterogamety (XO and XY)
§ males produce two different types of gametes, either with or without X-chromosome or some
gametes with X-chromosome and some with Y-chromosome. Such types of sex determination
mechanism is designated to be the example of male heterogamety.
o Female Heterogamy(ZZ-ZW AND ZO-ZZ)
§ two different types of gametes in terms of the sex chromosomes, are produced by females, i.e.,
female heterogamety.
Sex Determination in grasshopper (XX-XO type)
• It was also observed that in a large number of insects the mechanism of sex determination is of the XO type, i.e., all
eggs bear an additional X-chromosome besides the other chromosomes (autosomes).
• On the other hand, some of the sperms bear the X-chromosome whereas some do not.
• Eggs fertilised by sperm having an X-chromosome become females and, those fertilised by sperms that do not
have an X-chromosome become males.
• Grasshopper is an example of XO type of sex determination
o Male heterogamety
o Males : only one X-chromosome besides the autosomes, XO
o Females have a pair of X-chromosomes (XX)
Sex determination in human and drosophila (XX-XY type)
• Among the males
o an X-chromosome is present
o counter part is distinctly smaller and called the Y-chromosome.
• Females: have a pair of X-chromosomes.
• Both males and females bear same number of autosomes
o males :autosomes plus XY
o female : autosomes plus XX.
Sex determination in birds,fowl and fishes (ZZ-ZW type)
• Female: ZW+autosomes
• Male: ZZ+autosomes
Sex determination in cockroaches(Zo-ZZ type)
• Female:ZO +autosomes
• Male:ZZ+ autosomes
Sex determination in honey bee
• The sex determination in honey bee is based on the number of sets of chromosomes an individual receives.
• An offspring formed from the union of a sperm and an egg develops as a female (queen or worker)
• an unfertilised egg develops as a male (drone) by means of parthenogenesis.
• males have half the number of chromosomes than that of a female.
• The females are diploid having 32 chromosomes and males are haploid, i.e., having 16 chromosomes.


• This is called as haplodiploid sex determination system
o has special characteristic features such as the males produce sperms by mitosis they do not have father
and thus cannot have sons, but have a grandfather and can have grandsons.

o
Human sex determination
• During spermatogenesis among males, two types of gametes are produced.
• 50 per cent of the total sperm produced carry the X-chromosome and the rest 50 per cent has Y-chromosome
besides the autosomes.
• Females produce only one type of ovum with an X-chromosome.
• There is an equal probability of fertilisation of the ovum with the sperm carrying either X or Y chromosome.
• the ovum fertilises with a sperm carrying X-chromosome the zygote develops into a female (XX)
• the fertilisation of ovum with Y-chromosome carrying sperm results into a male offspring.
• Thus, the genetic makeup of the sperm that determines the sex of the child.
• It is also evident that in each pregnancy there is always 50 per cent probability of either a male or a female child.
• It is unfortunate that in our society women are blamed for producing female children and have been ostracised
and ill-treated because of this false notion
MUTATION
• Mutation is a phenomenon which results in alteration of DNA sequences and consequently results in changes in
the genotype and the phenotype of an organism.
• In addition to recombination, mutation is another phenomenon that leads to variation in DNA.
• Types of mutations
o Gene mutation
§ Point mutations
§ Frameshift mutations
o Chromosomal mutations
§ Chromosomal abberrations
• Deletion
§ Numerical variations
• Aneuploidy
o Trisomy and monosomy
• polyploidy
• one DNA helix runs continuously from one end to the other in each chromatid, in a highly supercoiled form.
Therefore loss (deletions) or gain (insertion/duplication) of a segment of DNA, result in alteration in
chromosomes.
• Since genes located on chromosomes, alteration in chromosomes results in abnormalities or aberrations.
o Chromosomal aberrations are commonly observed in cancer cells.
• mutation also arise due to change in a single base pair of DNA. This is known as point mutation.
o A classical example of such a mutation is sickle cell anemia.
• Deletions and insertions of base pairs of DNA, causes frame-shift mutations
• chemical and physical factors that induce mutations are referred to as mutagens.
o UV radiations can cause mutations in organisms – it is a mutagen


GENETIC DISORDERS
Pedigree Analysis
• The study of inheritance of genetic traits in several generations of a human family in the form of a family tree an
analysis is called the pedigree analysis.
• pedigree study provides a strong tool, which is utilised to trace the inheritance of a specific trait, abnormality or
disease.

Analysis of pedigree chart

In the case of autosomal genes:
§ It equally affects both males and females.
In the case of sex-linked genes:
§ Affects the males as they are hemizygous.
§ The gene shows criss-cross inheritance i.e., the gene from the father is transferred to the grandson
through the daughters.
§ In the case of a sex-linked dominant gene, more females are affected than males.
§ Never transferred from father to son.
In the case of dominant genes:
§ One or both the parents have the disorder.
§ It expresses itself in every generation.
§ The disorder is common in the pedigree.
§ The genotype is either homozygous (BB) or heterozygous (Bb).
§ It affects one-half of the children.
In the case of recessive genes:
§ Neither of the parents may have the disorder.
§ The disorder is rare in the pedigree.
§ Both parents are either heterozygous or homozygous recessive.
§ The disorder skips generations.
§ The genotype is always hom ozygous (bb).
§ Affected offspring are born to unaffected parents.
Genetic disorders:
• Mendelian disorders
o Due to alteration and mutation in the single gene


o Follow Mendelian principle of inheritance.
§ Transmit the gene from parent to offspring
o The pattern of inheritance of such Mendelian disorders can be traced in a family by the pedigree analysis
o Mendelian disorders may be dominant or recessive.
o the trait may also be linked to the sex chromosome( haemophilia.) It is evident that this X-linked
recessive trait shows transmission from carrier female to male progeny.
o Eg:color blindness,haemophilia,sickle cell anemia,cystic fibrosis, phenylketonuria, thalassemi
Autosomal recessive Autosomal recessive Sex linked recessive
Myotonic dystrophy Phenyl ketonurea Colorblindness
Thalassemia Heamophilia
Sickle cell anemia

Sickle-cell anaemia :
• This is an autosome linked recessive trait
• transmitted from parents to the offspring when both the partners are carrier for the gene (or heterozygous).
• The disease is controlled by a single pair of allele, HbA and HbS.
• Out of the three possible genotypes
o homozygous individuals for HbS (HbSHbS) show the diseased phenotype.
o Heterozygous (HbAHbS) individuals appear apparently unaffected but they are carrier of the disease.
• as there is 50 per cent probability of transmission of the mutant gene to the progeny, thus exhibiting sickle-cell
trait
• The defect is caused by the substitution of Glutamic acid (Glu) byvaline (Val) at the sixth position of the beta
globin chain of the haemoglobin molecule.
o The substitution of amino acid in the globin protein results due to the single base substitution at the sixth
codon of the beta globin gene from GAG to GUG.
o The mutant haemoglobin molecule undergoes polymerization under low oxygen tension
o causing the change in the shape of the RBC from biconcave disc to elongated sickle like structure.
Phenylketonuria :
• This inborn error of metabolism
• Inherited as the autosomal recessive trait.
• The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine.
• As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives.
• Accumulation of these in brain results in mental retardation.
• These are also excreted through urine because of its poor absorption by kidney.
COLOUR BLINDNESS
• It is a sex-linked recessive disorder.
o due to defect in either red or green cone of eye resulting in failure to discriminate between red and green
colour.
• This defect is due to mutation in certain genes present in the X chromosome.
• It occurs in about 8 per cent of males and only about 0.4 per cent of females.
• This is because the genes that lead to red-green colour blindness are on the X chromosome.
• Males have only one X chromosome and females have two.
• The son of a woman who carries the gene has a 50 per cent chance of being colour blind.


• The mother is not herself colour blind because the gene is recessive.
o That means that its effect is suppressed by her matching dominant normal gene.
• A daughter will not normally be colour blind, unless her mother is a carrier and her father is colour blind.
• MALE: XcY (affected)
• Female : XX (normal),XcX Ccarrier),XcXc (affected)
THALASSEMIA
• an autosome -linked recessive blood disease
• transmitted from parents to the offspring when both the partners are unaffected carrier for the gene (or
heterozygous).
• The defect could be due to either mutation or deletion
• This results in reduced rate of synthesis of one of the globin chains (á and â chains) that make up
haemoglobin.
• This causes the formation of abnormal haemoglobin molecules resulting into anaemia which is characteristic of
the disease.
• Thalassemia can be classified according to which chain of the haemoglobin molecule is affected.
o Alpha thalassemia:
§ In á Thalassemia, production of á globin chain is affected while in â Thalassemia, production of â
globin chain is affected.
§ á Thalassemia is controlled by two closely linked genes HBA1 and HBA2 on chromosome 16 of
each parent
§ it is observed due to mutation or deletion of one or more of the four genes.
§ The more genes affected, the less alpha globin molecules produced.
o Beta Thalassemia:
§ â Thalassemia is controlled by a single gene HBB on chromosome 11 of each parent and occurs
due to mutation of one or both the genes.
o Thalassemia differs from sickle-cell anaemia in that the former is a quantitative problem of synthesising
too few globin molecules while the latter is a qualitative problem of synthesising an incorrectly
functioning globin
Haemophilia :
• sex linked recessive disease
• its transmit from unaffected carrier female to some of the male progeny h
• a single protein that is a part of the cascade of proteins involved in the clotting of blood is affected.
• Due to this, in an affected individual a simple cut will result in non-stop bleeding.
• The heterozygous female (carrier) for haemophilia may transmit the disease to sons.
• The possibility of a female becoming a haemophilic is extremely rare because mother of such a female has to be at
least carrier and the father should be haemophilic (unviable in the later stage of life).
•

o Male: XhY (Affected)
o Female: XhX Carrier),XX (normal),XhXh( affected)
•
• The family pedigree of Queen Victoria shows a number of haemophilic descendents as she was a carrier of the
disease.
Chromosomal disorders
§ caused due to absence or excess or abnormal arrangement of one or more chromosomes.
§ This is due to
o (a) Failure of segregation of chromatids during cell division cycle results in the gain or loss of a
chromosome(s), called aneuploidy.
§ For example,
• Down’s syndrome results in the gain of extra copy of chromosome 21.
• Turner’s syndrome results due to loss of an X chromosome in human females.
o (b) Failure of cytokinesis after telophase stage of cell division results in an increase in a whole set of
chromosomes in an organism and this phenomenon is known as polyploidy. This condition is often seen
in plants.


Down’s Syndrome :
o The cause of this genetic disorder is the presence of an additional copy of the chromosome number 21
(trisomy of 21).
o This disorder was first described by Langdon Down (1866).
o The affected individual is short statured with small round head, furrowed tongue and partially open mouth
(Figure 5.16).
o Palm is broad with characteristic palm crease.
o Physical, psychomotor and mental development is retarded.
Klinefelter’s Syndrome :
• This geneticdisorder is also caused due to the presence of an additional copy of X-chromosome resulting into a
karyotype of 47, XXY.
• an individual has overall masculine development however, the feminine development
(development of breast, i.e., Gynaecomastia) is also expressed
• Suchi ndividuals are sterile.
Turner’s Syndrome :
• Such a disorder is caused due to the absence of one of the X chromosomes, i.e., 45 with X0( monosomy)
• Such females are sterile as ovaries are rudimentary beside other features including lack of other secondary sexual
characters