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17 - Inheritance-New

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3 views

17 - Inheritance-New

Uploaded by

daveymilan36
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Chromosome & Inheritance

Chromosome: They are the thread like structures found in the nucleus of
plant & animal cells and are mainly composed of DNA which serves as the
genetic material of the living organisms.

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• The chromosomes are arranged in pairs (except for egg & sperm cells)
and each are known as homologous chromosomes. The homologous
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chromosomes are inherited- one from each parent.


• Before undergoing cell division: The chromosomes double (replicate)
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their DNA and form two sister chromatids which are attached by a
common centromere.IT IS TO BE NOTED THAT THE CHROMOSOME
NUMBER DOES NOT CHANGE WITH THE DEVELOPMENT OF SISTER
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CHROMATIDS.
• The number of chromosomes is fixed in a species & for humans it is 46.
• Diploid cell/Nucleus: A diploid cell is a type of cell where the nucleus
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contains both sets of paired chromosomes. All the body cells are
diploid in nature. (Written as 2n=46)
• Haploid cell/ Nucleus: A haploid cell is one which has only one set of
unpaired chromosomes. The egg & sperm cells are haploid. (n=23)
Chromosome & Inheritance

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Gene: It is a portion of DNA on the chromosome which provides information

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for making a specific type of protein (genes code for particular proteins).
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Chromosome & Inheritance

• The genes control a wide range of characteristics related with the body
which may range from external appearances such as eye colour, hair
colour, hair type to internal mechanisms such as haemoglobin pigment
production, hormones synthesis etc.
• Genes are inherited from the parents.
• Allele: An allele is a different variant of the same gene. Each allele is
inherited from one parent. They are present on the same location on
each homologous chromosome and control a particular character or
trait of the body. E.g. Allele responsible for brown hair colour and the

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corresponding allele for black hair colour. Sometimes an allele can be
more than two: Alleles for Blood grouping-ABO.

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Chromosomes in Humans
• Humans have 23
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pairs of
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chromosomes (i.e.
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total 46 in number)
of which 22 pairs are
autosomes & 1 pair
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is the sex
chromosomes.
• The sex
chromosomes are
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responsible for the


determination of the
sex of the individual:
Males have the sex
chromosomes: XY
Females have the sex chromosomes: XX
Chromosome & Inheritance

Mitosis
Mitosis is a type of cell division in which genetically identical cells are
produced & the chromosome number is maintained. One parent cell
produces two identical daughter cells.
Mitosis is seen in:
• Areas of growth- The cells can grow only to a certain extent. For
further growth & development of the organism, new cells have to be
produced by cell division. This is brought about by mitosis.

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• Regions of repair & regeneration: In the places where a damage to the
cells has taken place e.g., a wound, new cells are formed by mitosis for
restoration.

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• Asexual Reproduction: Plants such as potato reproduce asexually with
the help of mitosis.
Process
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1. Before the process of mitosis:
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The DNA in the cells double
(undergoes replication) & the
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chromosome forms → 2 sister


chromatids joined together by a
centromere.
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2n 2n
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2. During mitosis: the


chromosomes arrange 2n
themselves at the centre of
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the nucleus & the


chromatids separate and are
passed on to the two
daughter cells.
2n
Chromosome & Inheritance

3. The daughter cells produced are identical to the parent cell & have
the same chromosome number.

Meiosis
Meiosis is a type of cell division in which the chromosome number
becomes half of the parent cell i.e. haploid (n) cells are formed from
the diploid parent (2n) cells. It is said to be “reduction division”. A

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diploid parent cell produces four haploid daughter cells.
Meiosis is seen in:

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• Testis & Ovary (in mammals): Meiosis leads to the production of
sperm & ovum which are haploid.
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• Anther & Ovule (flowering plants): Pollen grain & ovule are

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formed due to meiosis which are haploid.
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Importance Of Meiosis
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Meiosis is important for maintenance of the chromosome number


in living organisms reproducing sexually. It also helps in maintaining
genetic diversity.
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Chromosome & Inheritance

Process
1. Before meiosis:
The DNA in the cell doubles (replicates) & the chromosome forms 2
sister chromatids joined at the centromere.

2n

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2. Meiosis 1:
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Each chromosome from the homologous pair separates & is passed on
to each daughter cell. It is here where the reduction of chromosome
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number occurs & the diploid cell gives rise to two haploid cells. But the
process is not yet complete.
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2n
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n
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Chromosome & Inheritance

3. Meiosis 2:
The sister chromatids present in the haploid daughter cells separate &
the daughter cells divide in half → Thus four haploid daughter cells;
each with one sister chromatid are formed.

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Mitosis Mi Meiosis
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1. It occurs in all cells except sex 1. It occurs in sex cells.
cells.
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2.Cells divide once. 2. Cells divide twice.


3. Two daughter cells are 3. Four daughter cells are
produced. produced.
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4. Diploid cells with same 4. Haploid cells with half the


chromosome numbers are formed. chromosome number are formed.
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5. Daughter cells are identical to 5.Duaghter cells are


each other & the parent cell. genetically different from each other
as well as the parent cell.
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Chromosome & Inheritance

Inheritance
It is the transfer of genetic characters from the parents to the offspring.
Genotype: The genetic makeup or structure of the organism is known as its
genotype.
Phenotype: The physical observable characteristics of the organism is known
as its phenotype.
Character: A genetically determined characteristic of the individual
e.g. eye colour, height.

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Homozygous: The presence of identical alleles in a cell for a particular
character makes the individual -Homozygous for that particular character.

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Heterozygous: The presence of different alleles in a cell for a particular
character makes the individual -Heterozygous for that particular character.
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Dominant Allele: An allele is called dominant if its effect is expressed even if

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other alleles are present for the same character. E.g. the allele for brown eye
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colour is dominant over the allele for blue eye colour, thus the individual will
have brown eye colour even when both the alleles are present in the cell.
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The dominant allele is always written with a capital letter. (B) →Brown
Recessive Allele: An allele is called recessive when it shows its effect only
when two copies of the allele are present in the cell (i.e. the individual is
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homozygous recessive for the character).


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The recessive allele is always written in small letters. (b)→ Blue

Important Points – Alleles


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1. There is usually a pair of alleles for each character


which are inherited -one from each parent.
2. The alleles controlling the same character may have
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different effects.
3.The alleles reside on each chromosome of the homologous
pair & occupy corresponding positions.
4. The alleles are represented by alphabets.
5. The alleles which control the same character are given the
same alphabet- Dominant is given the capital letter & the
recessive is given the small one.
Chromosome & Inheritance

Example:
• In a plant producing red & white flowers: The dominant allele
producing red flowers is written as: R.
• The recessive allele producing white flowers is: r.
• Thus, a red flowered plant may have the alleles: RR or Rr (the plant has
received one allele each from the parents & R is dominant).
• But a plant with white flowers will have the alleles: rr (as r is recessive
& can be expressed only when both alleles are the same)

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When the red plant with RR alleles produces gametes by meiosis: they are
only of ‘R’ type R

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When the red plant with Rr alleles produces gametes: 50% gametes have ‘R’
B
allele & 50 % have ‘r’ allele.
R r

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Pure Breeding Organisms: They are organisms which when bred together
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produce exactly similar off springs like themselves. These organisms are
homozygous for the particular character for which they are considered pure
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breeding.
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Difference between phenotype & genotype: Both the red flowered plants (RR)
& (Rr) have the same phenotype as they both produce red flowers but they
differ in their genotype- the allele pairs are different (the pure breed has RR as
the genotype while the other has Rr as its genotype)
Chromosome & Inheritance

Monohybrid Inheritance
It is the inheritance of one pair of contrasting character which is controlled
by a single gene. Eg. Tall or dwarf pea plant.
• It can be illustrated by using a genetic diagram known as Punnett
Square.
• Punnett square shows all the possible combination of alleles which can
be present in the off spring.
• From the Punnett square→ The probable ratio of the off springs can be

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calculated.

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Steps

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1. Write phenotype & genotype of parents
B
2. Write the type of gametes which can be produced by the parents.

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Eg. Crossing of a Tall Homozygous Pea Plant (TT) with a Dwarf Homozygous
Pea Plant (tt).
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Parent Phenotype: Tall Dwarf
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Parent Genotype: TT tt
Gametes Produced: T t
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3. Punnett Square: TT
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T T
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t Tt Tt
tt
Tt Tt
t
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Offspring Genotypes: Tt (This is the first generation or F1 generation of


plants)
Offspring Phenotypes: All tall plants.
Chromosome & Inheritance

Now two off springs from the first generation are bred:
Parent Phenotype Tall Tall
Parent Genotype Tt Tt
Gametes Produced
T t T t

Punnett Square Tt
T t

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TT Tt
T
Tt
Tt tt

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t B
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Offspring Genotype: TT, Tt & tt: Genotypic ratio→1:2:1 (This is the 2nd
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generation or F2 generation of plants)
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Offspring Phenotype: Tall (75%), Dwarf (25%): Phenotypic Ratio→ 3:1


• It is to be noted that this does NOT tell us the number of offspring the
organism will have but it indicates the probability of the type of
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offspring – i.e. in this example the probability of the offspring to be a


tall plant is 75 % & to be a dwarf plant is 25 %.
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Chromosome & Inheritance

Test Cross (Back Cross)


An organism with a dominant characteristic may be homozygous
dominant- having similar dominant alleles or heterozygous dominant
having- one recessive & the other dominant allele.
To determine the genotype, we can cross it with a known homozygous
recessive organism. This is known as the test cross or back cross.
The homozygous recessive organism will produce gametes with only
recessive alleles.

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Scenario 1: Tall plant (Homozygous dominant) -TT crossed with Dwarf
plant (Homozygous recessive)-tt → Will produce only tall plants.

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TT

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Tt Tt
T

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Tt Tt
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Scenario 2: Tall plant (Heterozygous dominant)- Tt crossed with Dwarf plant


(Homozygous recessive)-tt→ Will produce both tall(50%) & dwarf(50%)
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plants.
Tt
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T t

Tt tt
tt t
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Tt tt
t

Thus, we can determine whether the tall plant was Homozygous


dominant or Heterozygous dominant.
Chromosome & Inheritance

Pedigree Diagram
• Pedigree diagrams are like family trees which show inheritance pattern
of a particular characteristic through several generations. It is very
important for tracing genetic diseases running in a family.
• Males are depicted by square shape while females are represented by
circles.
• Parents are connected by horizontal lines & vertical lines indicate the
offspring.
• Usually, the individuals affected by the disease are marked red while

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normal persons are marked blue. Other colours may also be used.

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Interpretation:
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1. In the first generation→ the male (husband) had the disease but the
wife was normal.
2. In the second generation →They had five children: 2 males (of which
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one had the disease) & 3 females (of which 2 had the disease). One
affected female did not marry. [ The normal female also did not
marry.]
3. In the third generation → the affected male & female who married had
6 off springs- 3 males & 3 females (2 females & 1 male were affected
by the disease in the 3rd generation.) [ The normal male who married a
normal female had 3 normal children]
Chromosome & Inheritance

Co-dominance
It is a condition where the alleles responsible for a particular
character are both expressed equally and have an effect on the
phenotype of the individual. Neither is dominant or recessive. Eg.
ABO blood group in humans.
• Capital & small alphabets cannot be used for writing co-
dominant alleles as they are neither dominant or recessive.
Instead a superscript alphabet (IA) may be used.
• The blood groups in human are: A, B, O & AB and the alleles

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responsible are: IA , IB , IO.
• IA & IB are codominant so when they are present together, the
blood group of the individual becomes: AB

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• Both IA & IB are completely dominant over IO, so when IA IO are
Bpresent→ blood group is A & when IB IO are present → blood
group is B.

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Inheritance of Blood Group ‘O’


Blood group ‘O’ can be inherited even if both the parents have A or B blood
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groups and are heterozygous.

Phenotype of Mother: Blood Group ‘A’


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Phenotype of Father: Blood Group ‘B’


Genotype of Mother: IA IO
Genotype of Father: IB I O

Gametes: IA IO x IB IO
Chromosome & Inheritance

Punnet Square:
IA IO
IA IO

IB IAIB IBIO
IB I O IAIO IOIO
IO

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F1 Genotypes: IAIB, IAIO, IBIO, IOIO
F1 Phenotypes: AB, A, B, O

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Ratio:
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Thus, one offspring out of four off springs can have the blood group: O.

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Incomplete Dominance:
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It is a phenomenon where both the alleles partially express their
characteristic leading to the development of an intermediate form of the
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character. Eg. A cross between a red rose & white rose produces an
intermediate-coloured pink rose.
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Chromosome & Inheritance

Sex Determination
• Humans have 23 pairs of
chromosomes out of which there
is one pair which determines the
sex of the organism known as sex
chromosomes.
• The sex chromosomes are X & Y.
• Males have the sex
chromosomes: XY

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• Females have the sex
chromosomes: XX
• As the offspring inherits one sex chromosome each from their parents:

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Y chromosome is exclusively inherited from the father.
So, it is the father who is responsible for determining the gender of the
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offspring.

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(It is to be noted here that the entire chromosome is responsible for
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sex determination & not just a pair of alleles!!)
• There is a 50% chance of the offspring being a boy & 50% chance of it
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to be a girl.
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Chromosome & Inheritance

Sex Linked Characteristics


• The alleles found on the sex chromosomes which control various
characters are known as “sex linked”.
• The “Y” chromosome is much smaller than the “X” chromosome and
has much lesser genes. So, males who only have a single “X”
chromosome, have single alleles for several characters which are then
expressed even if they are recessive in nature. Thus, males are much
more susceptible to sex-linked recessive diseases like colour blindness
& haemophilia.

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• The females having two “X” chromosomes usually have a dominant
allele & are protected from the sex-linked recessive diseases.
• The females with one dominant allele & one recessive allele do not

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suffer from the disease but act as “Carriers” as they can pass it to their
offspring.
B
A form of Colour Blindness is a sex-linked inherited disease in which

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the affected individual fails to distinguish certain colours (red, green)
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when viewing them.
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Chromosome & Inheritance

Cross between a Normal male (XRY) & Carrier Female (XRXr)

Male Parent: XRY


Female Parent: XRXr
Gametes:
XR Y XR Xr

Punnett Square:

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XR Xr

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XR Xr

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XY
R
XR XRXR XRXr

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F1 Genotype: XRXR, XRXr, XRY, XrY


F1 Phenotype: Two females with normal vision, one male with normal vision
& one male who is colour blind. (25% chance of normal female,25 % chance
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of normal male,25% chance of carrier female & 25% chance of colourblind


male).
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Chromosome & Inheritance

Protein Synthesis
• A chromosome is made up of DNA- the genetic material & the DNA is
made up of nucleotides.
• The nucleotides contain nitrogenous bases. These bases from opposite
strands remain joined together: adenine→ thymine & cytosine→
guanine. There may be thousands of base pairs in a DNA molecule.
• Each group of three bases known as ‘triplet’ or ‘codon’ have
information for coding or determining one type of amino acid required
during the synthesis of proteins. The sequence of bases in the triplet

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determines the type of amino acid synthesized.eg. C(cytosine)-
G(guanine)-A(adenine) codes for: arginine.
• Several amino acids chain together to form proteins.

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• The ribosomes are the sites of protein synthesis: The place where
amino acids are joined to form proteins.
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• The DNA which is present inside the nucleus cannot travel outside to

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the cytoplasm where ribosomes are present due to its large size.
• A smaller molecule known as mRNA (messenger RNA) is formed to
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send the information for protein synthesis from the nucleus to the
ribosomes.
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DNA strand unwinds to expose the bases→ One strand of DNA acts as
the template→ mRNA is formed with complimentary bases to the
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template (in RNA: thymine base is replaced by uracil base) : This


process is known as Transcription.
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Chromosome & Inheritance

The mRNA molecule then moves out from the nucleus to the cytoplasm &
attaches itself to the ribosome. → The ribosome then assembles the protein
molecule by joining amino acids) together as per instructions present in the
mRNA molecule: This process is known as Translation.
[The amino acids are brought to the ribosomes by special RNA molecules
known as tRNA or Transfer RNA ]

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Importance of Proteins
• They are the structural & functional unit of the cell.
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• The enzymes, antibodies, carrier molecules like haemoglobin,


hormones & receptors for neuro transmitters are all protein in nature.
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Chromosome & Inheritance

Specialized cells & Stem Cells


Specialized Cells: Some cells after cell division, become adapted to
perform a specific function e.g. neurons which are cells of the nervous
system. They are known as specialized cells. These cells contain all the
genes which are present in the body but only activate those which are
required for their functioning.
* The activation of genes is known as ‘gene expression’ & when
activated, the genes are said to be ‘expressed’.

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Stem Cells: These are unspecialized cells which can develop into any type
of cells. Eg. The growing human embryo is composed of stem cells which
are constantly dividing and helping in its growth.

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In adulthood: Stem cells are found in the bone marrow which give rise to
various types of blood cells & are also found in the nervous system.
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Importance: They are currently a hot topic in the medical research field as they
can be used to replace cells of damaged tissues & organs like spinal cord, liver,
kidney etc.
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