Genetics 1

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 GENERAL SCIENCE & TECHNOLOGY
Biology

Module–8 : Genetics • Monohybrid test cross: The progeny obtained

MENDEL’S FINDINGS
1. Mendel’s Law of Dominance and Recessive
• Each of the f1 generation plant shows inheritance of
Y allele from one parent and a G allele from the oth-
er. When the f1 plants breed, each has equal chance of
passing on either Y or G allele to each offspring.
• In all the seven traits that Mendel examined, one form
appeared dominant over the other i.e., it marked the
presence of the other allele, e.g.
gene makes gene makes
flower red (R) flower white (r)
Dominant Recessive
BASIC TERMS USED IN INHERITANCE STUDIES
• Allele: It is an alternative form of a gene which
are located on same position (loci) on the homol-
ogous chromosome. Term allele was coined by
Bateson.
• Homozygous: A zygote is formed by fusion of
two gametes having identical factors is called
homozygote and organism developed from this
from the monohybrid test cross are in equal
proportion, means 50% is dominant phenotype
and 50% is recessive phenotype.
It can be represented in symbolic forms as follows.
F1 progeny (hybrid) × Recessive parent
t
T Tt
t tt
Monohybrid test cross ratio = 1 : 1
• Dihybrid test cross: The progeny is obtained
from dihybrid test cross are of four types and
each of them is 25%.
2. Law of Segregation: According to this law, for any par-
ticular trait, the pair of alleles of each parent separate and
only one allele passes from each parent to an offspring.
Allele in a parent’s pair of allele is inherited as a matter of
chance (we now know segregation of alleles occurs during
the process of meiosis).
3. Law of Independent Assortment: This is also known as
‘Inheritance law’. According to this law, different pairs of
alleles are passed to offspring independently of each other.
PARENTAL CROSS
Gametes from Hybrid 1

Round – yellow Wrinkled–green Parental Phenotype

zygote is called homozygous. seeds seeds
Ex. TT, RR, tt. RRYY rryy Parental Genotype
• Heterozygous: A zygote is formed by fusion of RY RY ry ry Gametes
two different types of gamete carrying different
factors is called heterozygote (Tt, Rr) and indi-
vidual developed from such zygote is called het- Rr Yy Rr Yy Rr Yy Rr Yy
f1 generation Genotype
erozygous. Round– Round– Round– Round–
yellow yellow yellow yellow
• Hemizygous: If individual contains only one f1 generation Phenotype
gene of a pair then individual is said to be hem- RY Ry rY ry
izygous. Male individual is always hemizygous
for sex linked gene.
• Phenotype: It is the external and morphologi- RRYY
Round–
RRYy
Round–
RrYY
Round–
RrYy
Round–
cal appearances of an organism for a particular RY
yellow yellow yellow yellow
character.
RRYy Rryy RrYy Rryy
• Genotype: It is the genetic constitution or genetic Ry Round– Round– Round– Round–
make-up of an organism for a particular charac- yellow green yellow green
ter.
• Back cross: A back cross is a cross in which F1
RrYY RrYy rrYY rrYy
rY Round– Round– wrinkled wrinkled
individuals are crossed with any of their parents. yellow yellow yellow yellow

RrYy Rryy rrYy rryy

• Test cross: When F1 progeny is crossed with ry Round– Round– wrinkled wrinkled
recessive parent then it is called test cross. yellow green yellow green

Punnett Square
 3
are transmitted to their progeny (off springs) through genes present
RY Ry rY ry
on their chromosomes during the process of sexual reproduction.
• Genes are arranged linearly along long chains of DNA se-
RRYY RRYy RrYY RrYy
RY Round– Round– Round– Round– quence, called chromosomes. The DNA of the chromo-
yellow yellow yellow yellow
some is associated with proteins that organise, compact
RRYy Rryy RrYy Rryy and control the access to the DNA, forming a material
Round– Round– Round– Round–
Ry yellow green yellow green called chromatin. In eukaryotes, chromatin is composed of
nucleosomes – segments of DNA wound around histone
RrYY RrYy rrYY rrYy
rY Round– Round– wrinkled wrinkled protein. The full set of hereditary material in an organism
yellow yellow yellow yellow
i.e., the combined DNA sequences of all chromosomes is
RrYy Rryy rrYy rryy called genome.
ry Round– Round– wrinkled wrinkled
yellow green yellow green Lethal Gene
Punnett Square
• Gene which causes death of individual in early stage when
Exceptions of Conclusions of Mendel it comes in homozygous condition is called lethal gene.
Exception of Dominance • It may be dominant or recessive both, but mostly recessive
There are two exceptions of law of dominance– for lethality. Lethal gene was discovered by L. Cuenot in
(i) Incomplete dominance coat colour of mice.
(ii) Co-dominance

Linkage Multiple Allele

• Linkage is the phenomenon of certain genes staying to- • More than 2 alternative forms of same gene is called as
gether during inheritance through generations without any multiple allele. Multiple allele is formed due to mutation
change or separation. This is due to their location on the and located on same locus of homologous chromosome.
same chromosomes. Example of multiple allele
• Linkage was first time seen by Bateson and Punnett in • ABO blood group: ABO blood groups are determined by
Lathyrus odoratus and gave coupling and repulsion phe- allele IA, allele IB, allele ID
nomenon. But they did not explain the phenomenon of IA = dominant
linkage. IB = dominant
• Sex linkage was first discovered by Morgan in Drosophila ID = recessive
and coined the term linkage. He proposed the theory of Possible phenotypes - A, B, AB, O
linkage. Blood Genotype Antigen or Antibody
Sex Linkage group agglutinogen or
agglutinin
When the genes of vegetative/somatic characters are present on sex-
A IAIA, IAIO A b
chromosome, it is termed as sex linked gene and such phenomenon
is known as sex-linkage. B IBIB, IBIO B a
Sex linkage AB IAIB A&B None
O IOIO None a&b

X - linkage Y - linkage sex determination

Genes of somatic charac- The genes of somatic characters • Sex determination is a biological system that determines
ters are found on X-chro- are located on Y- chromosome. the development of sexual characters in an organism. Most
mosome. The inheritance The inheritance of such type of
character occur only through the sexual organisms have two sexes: Males and females.
of X-linked character
may be through the males males, such type of character is • In a human, the sexual chromosomes complement is 46,
and females, e.g. Haemo- called holandric character. These 44 of which are autosomes while 2 distinct chromosomes
philia, Colour blindness. characters are found only in male. are the sex chromosomes, which determine the sex of an
E.g.: Hypertrichosis (excessive organism and various sex-linked characteristics.
hair on ear pinna.) • In humans, sex is predetermined in the male gamete. The
egg gamete mother cell is said to be homogametic because
Genes all its cells possess the XX sex chromosomes, sperms are
Genes are responsible for the characteristics features (or traits) of said to be heterogametic because around half of them con-
organism-plant or animals. The characteristics or traits of parents tain the X-chromosome and others possess the Y-chromo-

some to complement the first X-chromosome.
Deoxyribose Nucleic Acid (DNA)
• Deoxyribose nucleic acid (DNA) carries the genetic infor-
mation. It is a constitute of chromosome.
• Structure of DNA was worked out by X-ray diffraction
studies. A double helix model by DNA was proposed by
Watson and Crick in 1953. Rosalind Franklin and Maurice
Wilkins contributed significantly to this study. They sug-
gested that:
(i) Each DNA molecule consists of two polynucleotide
chains.
(ii) The chains are helically coiled around a common
axis.
(iii) DNA molecule has a diameter of 20 Å are complete
turn of helix is 3.4 Å. So there are 10 bases per turn
of helix.
(iv) Each DNA chain is complementary chain to the sec-
ond chain.
• Deoxyribose and a nitrogeneous base together form a nu-
cleoside. A nucleoside and a phosphate together form a
nucleotide.
Nucleoside = Deoxyribose + Nitrogenous base
Nucleotide = Deoxyribose + Nitrogenous base + Phos-
phate
• Deoxyribose is pentose sugar with five carbon atoms, four
of the given carbon atoms plus a single atom of oxygen for
a five numbered ring.
Genetic Disorders
• genetic disorder is a disease caused by abnormality in an
individual’s DNA.
• Genetic disorder may be grouped into two categories-
Mendelian disorders and chromosomal disorders.
• Mendelian disorders are chiefly determined by alteration
or mutation in the single gene. eg. haemophilia, cystic fi-
brosis, sickle cell anaemia, thalassemia, colour blindness,
phenylketonuria, etc.
(i) Haemophilia is an inherited disorder of blood in which
essential clotting factors are either partly or completely
missing.
(ii) In sickle-cell anaemia;. glutamic acid (glutamine) is re-
placed by valine at the sixth position in b chain of hae-
4
moglobin. In this disease red blood cells become sickle
shaped as compared to normal one.
• The chromosomal disorders are caused due to absence or
excess or abnormal arrangement of one or more chromo-
somes. Failure of segregation of chromatids during cell di-
vision cycle results in the gain or loss of a chromosome(s),
called aneuploidy.
• Types of chromosomal disorders are Patau Syndrome,
Edward’s syndrome, Down’s Syndrome, Klinefelter’s Syn-
drome and Turner’s Syndrome.
Patau’s syndrome is a serious rare genetic disorder caused
by having an additional copy of chromosome 13 in body’s
cells. It’s also known as trisomy 13. Babies with Patau’s
syndrome grow slowly in the womb and have a low birth
weight, along with a number of other serious medical
problems. Patau’s syndrome affects about 1 in every 5,000
births. The risk of having a baby with the syndrome in-
creases with the mother’s age.
Edwards’ syndrome is another serious genetic condition
also known as trisomy 18. It is caused due to presence of
additional copy of chromosome 18 in body’s cells and is
responsible for severe medical problems like physical and
mental disabilities. Most babies with Edwards’ syndrome
will die before or shortly after being born.
• Down’s Syndrome is caused by the presence of an addi-
tional copy of the chromosome number 21 (trisomy 21).
The affected individual is short statured with small round
head, furrowed tongue and partially open mouth. Palm is
broad with characteristic palm crease. Physical, psycho-
motor and mental development is retarded.
• Klinefelter’s Syndrome is caused due to the presence of an
additional copy of X-chromosome resulting into a karyo-
type of 47, XXY. Such an individual has overall masculine
development, however, the feminine development (devel-
opment of breast, i.e., Gynaecomastia) is also expressed.
Such individuals are sterile.
• Turner’s Syndrome is caused due to the absence of one
of the X chromosome, i.e., 45 with XO, such females are
sterile as ovaries are rudimentary besides other features
including lack of other secondary sexual characters.