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6. State the three major steps in DNA replication.
___________________________________________________________
7. Why is DNA fingerprinting a fool proof test?
___________________________________________________________
Notes

25.5 BLOOD GROUP INHERITANCE IN HUMANS

Every one of us is born with genes inherited from our parents. Our blood group
depends on the combination of a pair of genes, one of which is inherited from each
parent.
There are four blood groups A, B, AB and O. Every human being has one blood
group out of the four. The genes which control the inheritance of these blood
groups are designated as IA, IB and i. When a foetus (growing young one in
mother’s womb) develops, its blood group is determined by the combination of
any of the two above mentioned genes, one received from each of the parents.
The gene combinations and the resultant blood groups are shown in the table 25.1
Table 25.1: The combination of genes and the resulting blood group
Gene combination Blood group
IA IA or IA i A
IB IB or IB i B
IA IB AB
ii O
From the table you can make out that gene IA and IB are dominant and i is
recessive. Apart from these blood groups, human beings may also belong to the
groups designated as Rhesus positive (Rh+) or Rhesus negative. Most humans are
Rh+. Some are Rhesus negative (Rh-). The Rh+ gene is dominant over Rh- gene.

ACTIVITY 25.2
Designate the blood group as either Rh+ or Rh- from gene combinations given below.
Gene combination present in the zygote Rh+/Rh- blood group
Rh+ Rh+ 1. ——————

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Rh+ Rh- 2. ——————
Rh- Rh- 3. ——————
Why should you know your blood group?
In case of any emergency such as an accident, or a diseased condition, blood Notes
transfusion may be required. Only a matching blood group of the blood donor
can be transfused. A person with blood group A can donate blood to patient with
blood group A and AB. AB can receive blood from any of the four blood groups.
O can receive blood only from O but donate blood to all four blood groups.
Sometimes there may not be time or facility available for prior ascertaining of
the blood group. Immediate blood transfusion is possible if the blood group is
known. If unknown, the safest blood group for transfusion is O negative (O
group and Rh-). B can donate to B and AB. O is the universal donor and AB is
the universal recipient.
The entire human race can be divided into four groups on the basis of blood
groups. Do you think further distinctions made by human beings on the basis
of caste, creed and gender are justified?

25.6 SEX DETERMINATION IN HUMANS

The combination of sex chromosomes with autosomes determines whether the
foetus will be a boy or a girl. (figure 25.8). The foetus develops from the zygote
which is formed by the fusion
of the two gametes, the male
gamete or sperm and the female
gamete or egg. Gametes are
haploid [(have only ‘n’ number
of chromosomes) while the zygote
is diploid (2n)]. 44+XY 44+XX

Ova or eggs are of one kind

only. These contain 22
autosomes and a single X 22+X 22+Y 22+X
chromosome. Sperms are of
two kinds (i) having 22 autosomes
and one X chromosome, or (ii)
having 22 autosomes and a Y 44+XX 44+XY

chromosome (see figure

25.8).When X bearing sperm
fuses with the egg, a female
Fig. 25.8 Chromosomal basis of sex determination
child results with 44 autosomes in Humans

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and two X chromosomes. If Y bearing sperm fuses
with the egg then a male child results with chromosomal constitution of 44
autosomes and one X and one Y chromosome.
You have already learnt about cell division earlier and know that at metaphase
Notes chromosomes are clearly seen lying at the equator and may be studied under
the microscope or by taking a photograph. You can then easily identify and state
that the chromosomes in a male human are 44 autosomes +XY and those in a
female are 44 autosomes+ XX. It is, therefore, wrong to blame a woman if she
does not bear a male child as is done in some ignorant families of our country.
Sex of an individual is purely due to chance and neither the mother nor the
father can be blamed.
The Pre-natal Diagnostic Techniques (Regulation and Prevention of Misuse) Act,
1994, was enacted and brought into operation from 1st January, 1996, in order to
check female foeticide. The Act prohibits determination and disclosure of the sex
of foetus. It also prohibits any advertisements relating to pre-natal determination
of sex and prescribes punishment for its contravention. The person who
contravenes the provisions of this Act is punishable with imprisonment and fine.

INTEXT QUESTIONS 25.3

1. What is a gene made of?
___________________________________________________________
2. To which blood group would a person having genes IAi belong?
___________________________________________________________
3. If a Y bearing sperm fuses with an egg, what will be the sex of the individual
developing from the zygote?
___________________________________________________________
4. How many X chromosomes can be found in the cells of the body of (i) a boy,
and (ii) a girl.
___________________________________________________________
5. How many molecules of DNA are present in one chromosome?
___________________________________________________________

25.7 HEREDITARY DISORDERS

You already know that genes control all features of an organism. Some times
a gene may change or mutate either in the gamete or zygote. Mutated gene

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may not remain normal. Also, sometimes a defective gene present in the
parent may not be expressed in the parent as the dominant normal member of
its pair may mask the effect of the defective gene. But if the child inherits the
defective gene from both the parents, the presence of the defective pair of
genes has a harmful effect. Such a disorder is termed hereditary or genetic
disorder.(figure 25.9) Notes
Parents: Normal mother Normal father
(defective gene masked) (defective gene masked)

+ +

Gametes: + +

Offsprings: + + + +
Normal Abnormal
Normal Normal
(Genetic disorder)

Fig 25.9 Hereditary or genetic disorder

There are several kinds of hereditary disorders, some of which may be caused due
to presence of only one defective gene which is dominant or sometimes by the
presence of two defective recessive genes. As shown above genetic disorders
cannot be cured by medicines. Scientists are trying to discover methods by which
a defective gene occurring in an individual may be removed or replaced by a
normal gene. This is called gene replacement therapy.

25.7.1 Common genetic (hereditary) disorders

There are several genetic (hereditary) disorders. Three common hereditary
disorders are Thallasemia, Haemophilia and Colour blindness.
(i) Thallasemia
Patients suffering from this disorder are unable to manufacture haemoglobin, the
pigment present in red blood corpuscles which carries oxygen to tissues. This is
because the pair of genes controlling haemoglobin production are defective.
Thallasemics (persons suffering from thallasemia) require frequent blood
transfusion in order to survive. The thallasemia gene is present on an autosome.
(ii) Haemophilia
Those persons suffering from haemophilia have either a defective gene or lack
genes, which control production of substance responsible for blood clotting. In the

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absence of such substance blood does not coagulate. Once bleeding starts, it does
not clot easily.
(iii) Colour-blindness
Different kinds of colour-blindness have been detected but in the most common
Notes form of the disorder, a person is unable to distinguish the blue colour from green.
Again this is due to the presence of a defective gene or absence of the gene,
responsible for colour vision.
The genes for both haemophilia and colour-blindness are located on X-chromosome,
and hence, the disorder is passed down from mother to the son because a boy
receives the X chromosome from the mother and Y chromosome from the father.
In the mother, with two X-chromosomes, the defect does not show up. Also in the
daughter, the effect of defective gene on X-chromosome inherited from mother
may be masked by a normal gene on the X-chromosome, inherited from her father.
Since X chromosome bears the defective gene, the son suffers from the genetic
disorder, as male has only one X chromosome and one Y chromosome and so the
defective gene does not get masked.

25.8 GENETIC COUNSELLING

Thallasemia is an autosomal genetic disorder, while, haemophilia and colour
blindness are sex-chromosomal or X-chromosomal disorders. You would now
appreciate why marriages between close relatives termed consanguineous marriages
are discouraged. In marriages between relatives, chances of inheriting defective
genes by the offspring is enhanced as both parents, being related may possess the
same defective genes. If recessive, the two defective genes express when passed
on to offspring by both parents. Therefore, it is essential to know the probability
of a genetic defect in the offspring and seek the advice of genetic counsellors who
are professionals. Genetic counselling helps one to know the chances of
inheritance of a genetic disorder so that people can make informed decisions.

25.9 THE HUMAN GENOME

You can well imagine that human beings are complex in structure, behaviour and
body functions. Thus, many genes control the features that make a human being.
In 2003, it became possible to identify many of these genes of humans – their
location on the chromosomes and the combinations of nucleotides that constitute
them. All the various genes together constitute the genome. Knowing the human
genome can help in finding and devising therapies for many genetic defects. This
promises hope for people suffering from genetic disorders, as the location of every
gene of the human genome is now known.

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25.10 GENETIC ENGINEERING
Genetic Engineering is also called recombinant DNA technique. In this technique,
gene from an organism of a species can be transferred to become part of the or
genome of an organism belonging to another species which is then termed GMO
genetically modified organism. The transfer is possible through “plasmids” Notes
present in bacteria. Plasmid is a circular DNA molecule found in bacteria. It is
not part of the bacterial chromosome. Transfer is also possible through viruses
that attack bacteria and are called
bacteriophage. These carry genes
from a cell culture (bacterial cells
grown in a culture dish) and transfer
into bacteria. A bacterial “clone”
containing the required gene may
then yield the “foreign” gene which
can be used for replacing a defective
gene during gene therapy. Genetic
engineering also has many other
benefits. Try and find out at least
two such benefits. You may take the
help of books or internet. (figure.
Fig. 25.10 Major steps in genetic engineering.
25.10)

INTEXT QUESTIONS 25.4

1. What will be the blood group of an individual with genetic combination IA IB?
___________________________________________________________
2. How can a person be normal for a trait even when carrying one defective gene
for that trait?
___________________________________________________________
3. Which is the safest blood group for donation if an accident victim of an
unknown blood group has to be given immediate blood transfusion?
___________________________________________________________
4. On which kind of chromosome, the autosomes or the sex chromosomes, are
defective genes causing, Thallasemia, colour blindness and Haemophilia located?
___________________________________________________________
5. Name the therapy in which a defective gene is substituted by a normal gene.
___________________________________________________________

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6. The given box diagram represents the ratio of females to males or the sex ratio
in our country for 10 decades (1901 to 2001). Answer the following questions
in the light of your knowledge of sex determination and the data presented in
the box diagram.
• What does the bar diagram show? _________________
Notes
• As per scientific knowledge regarding sex determination, what should be the
sex ratio or the male to female ratio at a given point of time. _____________
• Assign one reason to the trend showing deviation from the expected sex ratio.
___________________________________________________________
• In what ways is such a trend unfavourable? ________________________
• Suggest a way by which such a trend can be stopped. ___________________

1,000

980

972
Females per thousand males

960 964
955
950
945 946
940 941
934 933
930 927
920

900

Years 1901 1911 1921 1931 1941 1951 1961 1971 1981 1991 2001
Graph related to sex ratio is included here

• Do you notice any reversal in the trend? What would you attribute it to?
________________________________________________________

WHAT YOU HAVE LEARNT

• Passing down of characters from parents to children is called heredity.
• Children of same parents differ because they possess different combinations of
parental genes. These difference are termed variations. We are all human beings
but can be distinguished easily from each other due to variation.
• Heredity and variation are due to genes and their varied combinations.

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• Study of heredity is called Genetics.
• Mendel was the first to postulate laws of inheritance (heredity) and he said
that heredity was due to “factors” and that every feature was controlled by a
pair of factors which separate into different gametes during gamete formation.
• Another Mendelian law of inheritance stated that in a pair of genes one may Notes
be dominant and the other recessive. The dominant gene of the pair masks the
effect of the recessive member of the pair.
• Sutton found out that “Mendelian factors” were the genes and that genes are
present on chromosomes.
• Chromosomes are present in pairs in the nucleus and each is made of one
molecule of DNA and proteins.
• The diploid number of chromosomes in humans is 46, of which 22 pairs are
autosomes and 2 chromosomes X and Y are sex chromosomes.
• Genes are made of DNA. They are segments of the DNA molecule of the
chromosome.
• A DNA molecule is a polynucleotide. Each of its nucleotides is made of a
nitrogenous base, a sugar, and a phosphate.
• A DNA molecule is made of two strands of DNA helically coiled around each
other.
• Before cell division, DNA in every chromosome replicates forming two
identical DNA molecules which are present as the two chromatids forming
the chromosome. In DNA replication, the two strands of a DNA molecule
unwind and each acquires a new strand so that two molecules of DNA are
formed.
• Sex determination in humans is based on combination of sex chromosomes.
Females have two X-chromosomes, while males possess one X and one Y
chromosome.
• Defective genes or absence of genes may cause genetic disorders
e.g.thallasemia, haemophilia and colour blindness.
• Thallasemics lack genes responsible for production of haemoglobin so they
need frequent blood transfusion for survival.
• Haemophiliacs bleed profusely. Their blood cannot coagulate as they lack
genes for factors necessary for blood clotting. Hence their bleeding does not
stop easily.

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• Colour-blind people cannot distinguish the colour blue from the green due to
defective genes for colour vision located on X-chromosomes.
• Thallasemia is an autosomal genetic disorder while, haemophilia and colour-
blindness are sex chromosomal disorders.
Notes • The collection of all the genes of a species constitute its genome. Human
genome has been unravelled that is, location of all human genes on the chromosomes
is now known.
• Genetic engineering involves transfer of a gene from one species into
member of another species with the help of plasmids. Organisms carrying
foreign genes, that is, genes of another species are called genetically
modified organisms or GMO.
• DNA fingerprinting is a technique with the help of which the identity of a
person can be known from the genetic make up.

TERMINAL EXERCISES
1. Which statement is true for ‘genes’? Select the correct answer
(a) Genes are imaginary factors.
(b) Genes are fragments of DNA.
(c) Genes are present in the cytoplasm.
(d) Genes are not inherited.
2. What are “factors” named by Mendel called today?
3. What is the chemical nature of a gene? Name the three components of this
chemical.
4. Where are genes located?
5. State two differences between autosomes and sex chromosomes.
6. Define heredity, variation, genetic disorder and sex chromosomes.
7. Why does DNA have to be duplicated before cell division?
8. Mention the main steps in DNA replication.
9. What will be the blood group of the following which contain the genes IAi.
10. Why is haemophilia found mostly in boys?
11. With the help of a line diagram explain the chromosomal basis of a zygote
developing into a male child.

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