18.

Genetics and Organic Evolution

Genetics is a field of Biology which studies how
traits are passed from parents to their offsprings. Thus
the most fundamental characters which easily transmit
generation to generation from their parents are called
genetic characters and the process of transmission of
such heredity and the studies of ~eir causes are called
genetics. The passing of traits from parent to offspring is
called heredity and so genetics is the study of heredity.
The basic components of genetics are DNA, genes,
chromosomes and genetic inheritance. Genetics is built
around molecules called DNA and its molecules hold
all the genetic information for an organism. It provides
cells with the information they need to perfo~ tasks
that allow an organism to grow, survive and reproduce.
A gene is one particular section of DNA molecule that
tells a cell to perform one specific task. Due to heredity
the born offsprings resemble like their parents. Each
and every organism like human beings animals,
plants etc exhibit the characteristic of the heredity
and it is carried forward by the genes which are core
component of the chromosome. During reproduction,
DNA is actually replicated and passed from a parent
to their offspring. This inheritance of gene·tic material
by offspring influences the appearance and behaviour
of the offspring. Genetic inheritance occurs both· in
sexual reproduction and asexual reproduction. In
sexual reproduction two organisms contribute DNA
to produ ce a new organi sm. In asexua l reprod uction
one organi sm provid es all the DNA and produ ces a
clone of thems elves and geneti c materi al is passed from
one genera tion to the next. Exper iments perfor med
by an Austri an monk named Grego r Johan n Mend el
provid ed the founda tions of our curren t unders tandin g
of how geneti c materi al is passed from parent s to
their offspri ngs. The gene which was a physic al and
functio nal unit of heredi ty was called factor by mende l
throug h which he condu cted the experi ments . Grego r
Mende l is also called the father of Geneti cs becau se
he laid the found ation of Geneti cs, by makin g the
first scientific study of the heredi ty and inheri tance.
Mend el establ ished the princip les of segreg ation and
domin ance and an indepe ndent assort ment which
becam e most fundam ental for the scienc e of geneti cs.
But the word geneti cs was lstly coined by willia m
Bateso n in 1905.
Mende l's Exper iment : Grego r Mend el studie d
variou s peas plants by the metho d of crossb reedin g
and propo unded an extens ive theory on the basis
of geneti c heredi ty which is called Mende l's law of
Inherit ance. Mende l random ly selecte d the seven pairs
of peas specie s in which it was seen that the inhere nt
charac teristic of the one pair suppre ssed the inhere nt
charac teristic of the anothe r pair in his experi ment.
He called the first pair as Domin ant and anothe r pair
as Recess ive and he expres sed these factors which are
directl y respon dent for the heredi ty as a geneti c symbo l.
He also follow ed a conve ntion to write domin ant factor
by the Englis h capita l letter, while recess ive factor by
the small letter, like tallnes s by 'T and dwarf ness by
'f etc.
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According to Mendel there are two factors to express

the same inherent character in every reprodu ctive cell
and wheneve r these two factors are the S(lme then it is
called Homozy gous but when these two are opposite
then it is called Heteroz ygous. The cross breeders IT,
tt and Tt, tT etc. are the example s of homozy gous and
heterozy gous respectiv ely. Mendel studied firstly
one pair species of opposite character and then two
pairs species of opposite characters to diagonis e the
heredita ry characters of the cross breeded species. He
called such one pair cross breeder Monohy brid Cross
while as that of two pairs cross breeder Dihybri d Cross.
 Monohy brid Cross : Mendel selected two pea
plants of different tallness say- Tall plant ( TI) and
Dwarf plant (tt). He used these plants in the form
of. their parental plant (P) and through the artificial
pollinati on these plants are crossed then all the plants
obtained of the first generatio n (F1 ) were tall like all the
parental plants. Thus in F1 only the character of tallness
appeared . If the self pollinati on is done through the
crossing to the plants of the generatio n F1 then in the
generatio n (F2 ) 75% plants are found to be tall and 25%
to be dwarf and thus the required phenoty pe ratio of
these plants is 3 : 1. Now when Mendel examine d the
pl~ts of second generatio n (F2 ) then he observed that
in the obtained plants after the crossing and pollinati on
there were 25% pure tall, 50% hybrid tall and 25% pure
dwarf. Thus we can say in the most appropri ate form
that the plants of the generatio n F2 had the genotype
ratio of 1 : 2 : 1.
But when mendal performe d the cross breeding
(self pollinati on) of the plants of 2nd generatio n (F~)
then of pure tall (TT) plants pure tall (TT) plants were
obtained . Similarly on cross breeding of the plants of
2nd generati on (F2 ) the pure dwarf (tt) plants provide
pure dwarf (tt) plant. But on cross breeding of this
generati on plants of hybrid tall (Tt) with hybrid tall
gave him again pure tall (TT) and pure dwarf (tt) plants
in the ratio of 3 : 1. Thus these are the plants of third
generati on (F3 ).
The diagra mmat ic repres entati on of mono hybrid
crossi ng of pea plants can be expre ssed as below -

The Chara cters of indep enden t inheri tance of

mono hybri d cross can be expre ssed in tabula r form
as below -
 Paren tal
ptt~_\
offspr ing (p) bit~, X
Game tes Ti?~ Cross
1 ·· ""\, . pollfu ation
,. Tl
=

~jt.$t· G?,~~· (Fl)

Gametes,·:

(,,,
:_ :"tti•~11
T''1
J.''·"'
'•·· ;;;;,.
,; . .·t·,,'

f-~~no.typ~::tatid .;➔ 3 (pil~ t~);t- '.t.f f.tw~£) tpure;

Genotype· ratio ~ t (p~:·tall) ;.---~/~hybrid tall) ~ 1
• -(pu't1f·d::waft). • , , •
f , ; •
 Dihybrid Cross : In it the hybridization (crossed
pollination) of two pairs of plants of different species
take place. Gregor Mendel selected a spherical yellow
seed and green wrinkled seed arid crossed these to
obtain dihybrid cross. Let us suppose he displayed
two different plants by RRYY and rryy respectively.
Obviously in the gamete of first plant RY factor and
in the another plant ry factor would be present. When
the artificial cross pollination was done on these plants
then through the produced seeds all the obtained
plants ·were spherical and yellow hybrid seed. Thus
the wrinkled and green had a recessive character and
it was hidden in the generation F1 . But the spherical
and yellow had a dominant character that's why it
appeared. Now through the plants of generation F1
the process of self-pollination took place and the plants
of generation F2 were obtained. Thus by the p·rocess
of segregation four types of seed were obtained in the
following ratios-
(Spherical + Yellow Seed) --+ 9
(Spherical+ Green Seed) --+ 3
(Wrinkled + Yellow Seed) --+ 3
(Wrinkled + Green Seed ) --+ 1
Obviously this concludes that the ratio of spherical-
yellow seed and wrinkled-yellow seed is 3 : 1, while
the ratio of spherical-green seed and wrinkled-gre·en
seed remained 3 : 1
 Men.del's laws : By the proce ss of cross pollin ation
mono hybri d and dihyb rid cross es were obtai ned by
Mendel who propo unde d three laws. On the basis of
the collective concl usion s of the above cross breed ing
these laws were called Mend el's law of Inher itance .
 Mendel's first law (Law of dominance): According
to it a pair of factors present in the born offsprings one
factor comes through the male while another comes
through the female. In these factors the character of
one factor is suppressed the character of the another
and the suppressing factor is called dominant character
while other f~ctor is called recessive character. In the
first generation only the dominant character is visible,
while the recessive character is hidden and it appears
in the next generation.
Mendel's second law (Law of segregation) :
According to this law during the gametes formation
the factor of pairs of factors become segregated and out
of these factors only one factor is reached in the gamete.
Both factors never come at a time in the gamete. This
law is also called the Law of purity of Gametes.
Mendel's third law (Law of Independent
Assortment) : According to this law various pairs of
the factors (genes) which exist in any organism are
independent to each other and may unite arbitrarily
to any other. Thus the organism of new appearance
and new face complexion may born.
Variation in Biology
The variation in biology is all the differences which
exist between members of the same species. This means
any difference between cells, i~dividual organisms, or
groups of organisms of specific species caused either
by genetic differences (genotypic variation) or by the
effect of environment facto_rs on the .appearance of the
genetic potentials (phenotypic variation)
 '.L .J .L

The var iati on ma y be exh ibit ed in phy sica

l
app ear anc e, met abo lism , fert ility , me tho d
. _of
rep rod ucti on, beh avi our lear nin g and men tal cap ab1
l1ty
and oth er obs erv abl e or asse ssab le cha rac
ters .
Gen oty pic var iati ons are cau sed by alte rna tion s in
the
gen es car ried out by the chr om oso mes . The col
our
of the eye , bod y typ e and abil ity to resi st dise ase
are
gen oty pic var iati ons . Ind ivid ual s wit h num ero
us
sets of chr om oso mes are call ed pol ypl oid y. A lot
of
com mo n pla nts hav e two or mo re tim es the rtum
ber
of chr om oso mes and fres h spe cies ma y as a resu
lt of
this typ e of var iati on.
A gen oty pe var iati on can not be ide ntif ied by
obs erv atio n of the org ani sm; bre edi ng exp erim
ent s
oug ht to be con duc ted und er con trol led env iron men
tal
con diti ons to dec ide wh eth er or not the alte rna tion
is
inh erit able . In gen etic var iati on, the gen es of org ani
sms
wit hin a par ticu lar pop ula tion ma y cha nge . Gen
e
alle les det erm ine diff eren t trai ts tha t can be tran sfer
red
from par ent s to offs prin g. • The gen e var iati on
is
cru cial to the pro ces s of nat ura l sele ctio n. The gen
etic
var iati ons tha t exis t in a pop ula tion occ ur by cha
nce ,
but the pro gre ssio n of nat ura l sele ctio n doe sn't occ
ur
by cha nce .
The nat ura l sele ctio n is the effe ct of the inte ract ion s
tha t exis t bet wee n gen etic var iati ons in a pop ula
tion
and the env iron men t. The env iron men t esta blis hes
the
typ e of var iati ons wh ich are like ly to occ ur. The mo
re
fav ora ble cha ract ers are in tha t ma nne r tran sfer red
to
the ent ire pop ula tion .
The gen etic var iati on tak es pla ce mai nly thro ugh
DN A mu tati on, gen e flow (mo vem ent of gen es from
one pop ula tion to the oth er) and sex ual rep rod uct
ion .
Ow ing to the uns tab le nat ure of the env iron men
t,
pop ula tion s wh ich are gen etic ally uns tab le wil
l be
cap abl e of ada ptin g to alte ring situ atio ns mo re tha
n
tho se wh ich do not pos ses s gen etic var iati on.
But env iron men tall y resu ltan t var iati ons may aris e
as a resu lt of a par ticu lar fact or or the join t effe cts
of
ma ny fact ors like clim ate, foo d sup ply and acti viti
es
of oth er org anis ms. The phe not ypi c var iati ons as wel
l
inv olv e stag e in an org ani sm' s life cyc le and sea son
al
 variations in an individual. These variations do not
include any hereditary changes and in general are not
transmitted to future generations and that why' s these
are not important in the process of evolution. There are
two types of variation-co ntinuous and discontinuo us
variation.
Continuous Variation
The continuous variation is that variation which
has no boundary on the value which can take place
within a population. The line graph is used to exhibit
the continuous variation. The height, weight, heart
beat, finger length, leaf length etc of the organisms are
the examples of continuous variation.
Discontinu ous Variation
The discontinuo us variation is that variation
which has distinct groups for organisms to belong to.
A bar graph is usually used to exhibit the discontinuo us
variation. The tongue rolling, fing_er prints, eye colour,
blood groups etc of the organisms are the examples
of discontinuo us variation. A discontinuo us variation
with a lot of classes, none of which is extremely, small
is called a polymorphi c variation. The separation of the
majority of higher organisms into males and females
and the occurrence of different forms of a butterfly of
the same species; each coloured to blend with varying
vegetation are the examples of polymorphi c variation.
Human Morpholog ical Variation
The human morphologi cal variation arises from
a numb~r of factors which can be bluntly classified
as either genetic or environmen tal implanted into the
process of evolution. The population genetics take
care of variation within a single species or groups
made up of the same species and in this case it will
be homosapien s. The population genetics framed in
an evolutionar y structure is called microevolu tion
while macroevolu tion is concerned with evolutionar y
procedures which lead to the formation of various
species.
The fundamenta l featurs of human variability and
these are framed in genetic and adaptive terms like
size, height and weight, hair, eyes, ears, lips etc.
Org anic Evo lutio n
The slow and grad ual proc ess by whi ch livin g
orga nism s chan ge them selv es from the simp lest
unic ellu lar form to the mos t com plex mul ti-ce llula r
form s whic h exist toda y is called orga nic evol utio n. The
orga nic evol utio n prim arily invo lves mod ifica tion s in
the exis ting orga nism s and the inhe ritan ce of thes e
mod ifica tion s. A dolp hin flipp er and a hum an arm s
are the exam ples of orga nic evol utio n. Ther e are seve ral
theo ries that try to expl ain the mec hani sm of orga nic
evol utio n.
The orie s of Org anic Evo lutio n
Since the prim itive days scien tist have been tryin g
to expl ain the dive rsity of life form s thro ugh vari ous
theo ries. In the 19th cent ury, how ever the idea that
com plex anim als and plan ts deve lope d by grad ual
chan ge from simp ler form s was take n seriously. The
mec hani sm of the orig in of new spec ies from the
exis ting spec ies was lstly expl aine d by Jean Bap tise
Lam arac k and then by char les Darw in.
Lamarckism
Having accepted the fact that new species have
arisen from pre-existing species with modification , a
number of scientist have explained their opinion about
the mechanism by which this might have occured.
The first scientific theory concering this came from
lamarck. His ideas, written in his book, philosophy of
Zoology (1809) are known as Lamarckism. Based on his
observation, Lamarck proposed that variations among
organisms originate because of response to the needs of
the environment . Moreover, this ability to respond in a
particular direction guides to a trait's adaptation. Thus
Lamarck placed fossils in the evolutionary context
and stressed on adaptation as means for evolutionary
modification . His theory is often called the theory of
inheritance of acquired characters or the theory of
use and disuse of organ. Lamarck tried to explain the
origin of long neck and high shoulders of giraffe on the
basis of this principle. According to L~arck, as the
girrafes continually strained to stretch their necks for
browsing leaves of higher levels of plants, their necks
grew longer and shoulders grew higher in response
to their needs. But Lamarck.ism was very strongly
criticised by August weismann and he discarded the
id~a of inheritance of acquired characters. He showed
that even after cutting the tails of mice continuously
for 21st generations, a tail-less mouse was never born.
Lamarck's theory of evolution is now considered as an
erroneous and faulty assumption since the acquired
characters are not inherited.
Darwin ism
An English Scientist Charles Darwin clearly '?1d
convinc ingly set forth the concep t of natural selectio n
as the mechan ism of evoluti on. But the theory of
Darwin ism was propou nded by two English scientis t
Charles Robert Darwin and Alfred Russel Wallace.
Charles Darwin describ ed the concep t of organic
evoluti on in his book 'The Origin of Species '. Charles
Darwin gave the concept of natural selectio n t9 the
biological world about the organic evoluti on. The
concep t of his natural selection of organic evoluti on
was based on the observa tion of marrin e journey done
by him during 1831-1836 by a british ship H.M.S.
Beagle. Darwin in 1936 in his theory explain ed that
despite having the enormo us potenti al of fertility,
the popula tion size of any kind of organis m remain s
within a limit and became the foremo st natural ist of his
time. This is happen ed because of the struggl e among
the membe rs of same species and differen t species
for food, space and mate. The struggl e elimina tes the
unfit individ uals. In otherwo rds, the fit organis ms
possess some variatio ns, which are favoura ble and
they can leave the progen y to continu e the favoura ble
variations. This was called natural selection by him. He
also asserted that these variatio ns when accumu lated
for a long time lead·to the origin of a new species .
New Darwin ism
With the develop ment of new branche s of Biologri
scientist have formula ted the modem concep t of
organi~ evolutio n. The modem concep t of organic
evoluti onGwas propun ded by a Dutch Bo t ams· t and an
. . .
eminen t enettc1st Hugo Marie de-Vr1es . on the b as1s.
of mutation theory, about the genisis of new species
of the organisms in 1901. According to this modern
concept, the evolution is due to natural selection as
explained by Darwin and due to heritable variations
in characteristic s. The genetic variation arises due to
mutation and it can account for the creation of new
species. The mutation is the process by which a gene
or choromosom e set undergoes a structural change or a
change in the account of DNA it contains. The mutation
may lead to a change in the expression and behavior
of a gene. It often produces lethal phenotypic effects.
Another source of variation is genetic recombinatio n.
This is basically a natural process due to which
the arrangement of genes in the offspring is in a
combination that differs from that of the parents. This
is happened because the offspring receives genes
from both parents and this ensures a certain amount
of genetic variability from the parents to offsprings.
Thus both mutations and genetic recombinatio n may
give rise to new characters. The process of natural
selection may start working on these newly shown
characters by favouring some of them and eliminating
others. In this way, the natural selection may lead to
the evolution of a new group. The process of formation
of one or more new species from the existing one by
evolutionary means is called speciation (origin of
species). It is now believed that sudden changes in
genes or chromosome s also play an important role in
speciation. Thus all the above forces lead to the origin
of new species (speciation).
v.a. ..LL'-""•· -r----- ,-r ---------- .. /·

Difference between Darwinism and Neo-Darwinism

in tabular form-

Theory of Recapitulation
. The theory of recapitulation is also called the
hiogenetic law or embrydogical parallelism. In 1886
Ernst Hackle proposed that the embryonic development
of an individual organism (its ontogeny) followed the
same path as the evolutionary history of its species (its
phyloge ny) and that's why it is also called ontogen y
recapitu lates phyloge ny the main feature of this theory
is that the embryo nic stages of an organis m are similar
to the adult stages of the same organis m of its ancestor .
Similarl y on the basis of the compar ative study of the
embryos . of various vertebra tes it is observe d that the
embryo s of higher vertebra tes are similar to the adult
organis m of the lower vertebra tes.
Compar ative Anatom y of Organis ms.
1. Homolo gy : The homolo gy is the relation ship
betwee n biologic al structur e or sequenc es which are
derived from a commo n ancestor. The homolo gous
traits of organis ms are so explain ed by descent
from a commo n ancestor. The homolo gy can also be
describ ed at the level of the gene. In genetics homolo gy
can refer to both gene (DNA) and the corresp onding
protein product . The evolutio nary ancestry means that
structur es evolved from some structur e in a commo n
ancestor . For example the wings of bats and the arms
of primate s are homolo gous organs. Anothe r exampl e
of homolo gous organs are forelimb s of humans and
bats.
2. Analogy : The analogy of anatomy pertains to the
state of similari ty in function but necessarily similarly
in structur e and anatomical. Position between different
organis ms. This is in contrast to the homolo gy that
refers to the similari ties between organis ms in terms
of structur es and anatomy . The structur es showing
homolo gy are termed homolo gous structur es. They
may be similar in structur e and appeara nce but they
per£orm a differen t function . In other words structur es
showin g analogy are called analogo us structur es. The
analogo us structur es and homolo gous structur es also
differ in terms of evolutio nary origin. The analogo us
structur es do not indicate a common ancestry whereas
homolo gous structur es do. Thus analogy is one in which
the anatom ical structur es (behavio ural traits)be tween.
two unrelate d organis ms perform the same function s
but do not originat e from an ancestra l structur e (trait)
that organis ms ancesto rs had in common . Instead
the structur es (traits) arose separate ly and then later
evolved to perform the similar function s.
 3. Ves tigia l Org ans : The vest igia l orga ns are the
orga n whi ch hav e lost som e or all of thei r ance stral
func tion in a give n spec ies, but hav e been reta ined
duri ng the proc ess of evol utio n. In othe r wor ds an
orga n whi ch is hav ing no func tion curr entl y in the
orga nism but in the past it perf orm ed som e func tion
and duri ng the evo lutio n the func tion is lost the orga ns
like verm ifor m appe ndix , wisd om teeth , ear pinn a,
mal e nipp le etc are the com mon exam ples of vest igial
orga ns of hum an bod y.
4. Con nect ing Link : The livin g anim als whi ch
poss ess the char acte risti cs of two diffe rent grou ps
of anim als are kno wn as conn ecti ng link s. The lung
fish poss esse s the char acte rs of both the fishes and
amp hibi ans. It rese mbl es like the fishe s havi ng pair e~
fins, gills and scal es ove r the body . In othe r wor ds: it
also hav e the abil ity to resp ire thro ugh lung s whi ch
is the char acte risti c prop erty of amp hibi ans. Thu s
lung fish acts as a connecting link between the fish
and amphibian. This also suggests that in the past,
the amphibians organisms have developed from the
fishes. Some others important examples of connecting
links-
(a) Euglena: The euglena is said to b_e ~ connecti~g
link between plants and animals, but 1t 1s placed m
kingdom protista and not in plant or anim~ kingd_om.
Since it is a unicellular, eukaryotic microscopic orgarusm,
that's why it is placed in the kingdom protista.
(b) Proterospongia : The organism proterospongia
has the characters of two different groups which has
a connecting link between the protozoa and porifera.
The origin of sponge is considered to be from their
ancestors.
(c) Neopilina : The organism neopilina has
the characters of two different groups which has a
connecting link between the annelida and mollusca.
(d) P·eripatus : The organism peripatus has
the characters of two different groups which has a
connecting link between the annelida and arthopoda.
(e) Archaeopteryx : The Organism archaeopteryx
is considered as connecting link between the reptiles
and birds; while archaeopteryx lithographica is the
connecting link between the aves and reptiles. Despite
the presence of numerous avian features, archaeopteryx
had many non-avian theropod dinosaur characteristics.
Unlike modem birds, archaeopteryx had small teeth,
as well as long bony tail, features it shared with other
dinosaurs of the time.
(f). Prototheria : The organism prototheria is
considered to be a connecting link between reptile
and mammal. Almost all animals of this group became
extinct today. Three subclasses of prototheria are
echidna, zaglossus and ornithorhynchus which are
most common in Australia and New guinea.
5. Missing Link : On the basis of the theory of
evolution the 6ridge between the man and apes is called
missing link which is basically the hypothetical ape-
like ancestor of both. But there are supposed missing
links all over the evolutionary tree. For example-dogs
and bears are thought to be evolutionary cousins;
related to each other through a missing link. In the
human missing link a gaping hole in the fossil record
has been plugged with the discovery of a jawbone
fragment showing how our ancestors evolved from
Australopithecus aferensis, a primitive ape man to
modern Homo sapiens.
The Terms related to Genetics and Organic Evolution
. PhenotyP.e : The characteristics of the organism
which are directly and visibly appear is called
phenotype.
. G~notype : The genetic ~omposition of the organism
1n which a1f genes present m the body of the organism
are studied and the nature of the genes (dominant or
recessive) are detected or identified is called genotype.
Alleles: The characteristic factors (genes) which are
represented in the diversified form but which exhibit
the same character are called alleles of the other. Thus
an allele is an alternative form of a gene which is located
at a spe.cific position of a specific chromosome.
 Homozygous: If the factor (gene) exhibits the same
character specially during the crossbreeding through
the pollination then it is called homozygous.
The tall plant ( Tn, dwarf plant ( tt) etc are the
examples of homozygous.
Heterozygous : If in the pairs of the homologous
factors, both factors (genes) is just opposite to each
other in which one factor is dominant and another is
recessive then such pair is called heterozygous.
The hybrid tall plant ( t7), tall hybrid plant ( Tt) etc
are the examples of heterozygous.
Linkage : When two different characters tie up on
the same chromosome then its heridity is not freely
exempted and proceed along with these characters,
which is called linkage. The concept of the linkage was
firstly conceived by Morgan and he asserted that those
genes which carry forward the sex-linked characters
from the one generation to another are called sex-linked
genes. In fact the gene confined on the X-chromosome
is sex-linked gene because its effect dominants on the
both male and female. In the human beings there are
so many examples like colour blindness, Haemophilia,
Baldness etc which are the indicators of the sex-linked
characters.
Crossing Over : In the late prophase I of the
diplotene in which the meiosis cell division takes place
then it is observed that the chromosomes are mutually
attached to each other at some points and these points
are called chaisma. Also here among the homologous
chromosomes an exchange of chromatids material
takes place by the formation of chiasmata which is
called crossing over. Thus due to such gene exchange
the new characters and behaviours in the organism
appear to be visible and some remarkable diversity
comes into existence which helps in biotic growth.
Chromosomes: '!Jle word chromosome was firstly
pronounced by W. Waldaer. The chromosome has a
group of thread like structures of different lengths
and shapes in nuclei of eukaryotic cells. During the
nuclear division they are tightly coiled and easily
visible through the light microscope but after division
they become uncoil and invisible. The chromosomes
control the cell activity because they carry the genes
and have DNA, RNA and protein. Thus the number
of chromosomes per nucleus is the characteristic of the
species. Normally one set (haploid) or two sets (diploid)
of the chromosomes are present in the nucleus. In early
prophase of mitosis and later prophase of meiosis, the
chromosomes split lengthwise into the two identical
chromatids held together by the centr~mere. In
diploid cells there is a pair of sex chromosomes. Thus
chromosome is assumed to contain one DNA molecule
which is folded and coiled. One set of the chromosome
which is Haploid is also called Genome. The two sets
of the chromosomes (Diploid) form in the somatic cells.

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The chromosom e is of two types-
l. Sex-Chrom osomes: These chromosom es takes
art in sex determinat ion. The sex chromosom es are
p presented as X-chromosome and Y-chromosome and
:ese are found in pairs. In the male (X}') and female
(XX) the sex-chromosomes are different in numbers for
various living beings including human beings.
2. Autosomes : The paired somatic chromosomes
which have no role in the sex determinat ion but found
equally in both male and female.
Karyotype : The physical appearance of the
chromosome which is the core component of the given
species and these are characteriz ed by a specific pattern
called Karyotype. Since the number, size and shape of
the chromosomes vary substantially among the species
but are fairly constant within the species. Thus the
Biological representat i~n of the entire chromosom es
found within the species of the organism (plant or
animal) is called Karyotype.
Gene: The word gene was firstly identified and
used by a Danish botanist wilhelm Johannsen in 1909.
The gene is a unit of hereditary material located on
a chromosome which by itself or with other genes
determine the characters of the organism. Genes
may exist in a number of forms termed alleles. Genes
occasionally undergo for the radical changes called
mutation and appear in new allelic forms. Thus a
gene can be defined as the smallest hereditary unit
being capable either of recombinat ion or mutation or
contro~g a specific function.
The modern concept and perception about the gene
was propounde d by Benjer in 1956. According to it the
gene has a functional unit called Cistron, the unit of
mutation is called Muton and the unit of recombination
is called Recon. The research with bacteria has shown
that the smallest unit of recombinat ion or mutation
has one base pair, while a unit of function can be
determined by the cis-trans test. Thus the structural,
regulatoral and operationa l genes coexist.
Mutation: The process through which the structure
or the number of genes or chromosom es are altered
immediatel y in which the hereditary changes take
place is called Mutation. Thus due to it new hereditary
characters appear and are carried forward gener~tion
to generation. Thus the mutation is not a sustained
continuous affair but it appears immediatel y and
abruptly and it is of two types- •
1. Chromosom e Mutation: Under it the number
of present gene or location of the gene is altered and
sometimes innovative changes occur in the number ~f
chromosom es or the structure of the chromosome is
changed.
 2. Gene Mutat ion: Under it a chang e in one or
more of the bases in DNA takes place which resul~ the
format ion of an abnorm al protein . The gene mutati ~ns
are inheri ted only if they occur in the cells that give
rise to the gamet es and then somat ic mutat ions may
give rise to chema eras and cancer ns. The natura l
rate of mutat ion is extrem ely low but its freque ncy
(occurr ence probab ility) is increa sed abrup tly if the
invisib le radiat ions of X-rays, U /V rays or y-rays
directl y affect the cells during the meios is cell divisio n.
Genom e : The. heredi tary substa nce to be found in
the chrom osome is called genom e.
Plasm agene : A self-replicating heredi tary structu re
thoug ht to exist in cytopl asm and functio n in a manne r
analog ous to but indepe ndent of chrom osonal genes is
called plasm agene .
Back Cross : The matin g of a hybrid organ ism
(offspr ing of geneti cally unlike paren ts) with one of
its parent s or with an. organ ism geneti cally simila r
to the paren t is called back cross. This is useful in
geneti cs studie s for isolati ng (separ ating out) certain
charac teristi cs in a related group of anima ls or plants .
Test Cross : A test cross is a way to explor e the
genoty pe of an organi sm. The early use of the test cross
was an experi menta l matin g test used to determ ine
• what alleles are presen t in the genoty pe.
One gene-o ne enzym e hypot hesis : The one
gene-o ne enzym e hypoth esis is an idea that genes act
throug h the produ ction of enzym es, with each gene
respon dent for produ cing a single enzym e which
affects a single step in a metab olic pathw ay. This
conce pt was propo sed by USA based two geneti cists
Georg e Beadl e and Edwa rd Tatun in 1948.
Ideog ram : The symol ic repres entati on of
chrom osome s are called ideogr ams. In fact an ideogr am
is a diagra mmati c repres entatio n of the karyot ype that
shows all of the pairs of homol ogous chrom osome s in
the nucleu s. The pairs of chrom osome s are lined up in
order of size, so that the centro meres are aligne d and the
short arm is upper most. AN ideog ram is a useful point
of refere nce for analys ing mutat ions.
Eugen ics : The select ion of desire d herita ble
charac teristi cs in order to impro ve future genera tions,
specia lly in refere nce to huma ns. The term eugen ics
was coined lstly in 1883 by British explor er and natura l
scient ist Franc is Galto n (Cous ins of charle s Darw in)
who was influe nced by the Darwi n's theory of natura l
selecti on. He advoc ated a system that which allow ed
the more suitab le races (Strai ns)ofb lood a better chanc e
of prevai ling speed ily over the less suitab le. That's why
galton is called the father of eugen ics.
Vasec tomy: The vasect omy is a surgic al proced ure
for male sterili zation or perma nent contra ceptio n and
during the proced ure, the male vas defere ns are cut and
tied or sealed so as to preve nt sperm from enteri ng into
the urethr a and thereb y preve nt fertili zation .
Tubec tomy : The tubec tomy (Tuba l ligatio n) is a
surgic al proce dure for sterili zation in which a woma n's
fallop ian tubes are clamp ed and blocke d or severe d and
sealed , either of which preve nts eggs from reachi ng the
uterus for impla ntatio n.
 Euthenics :The science concer ned~ :th betterin g the
conditi on of human beings throug h the improv ement
of their environ ment.
Factors : The hereditary characters carried forward
by the agents generat ion to generat ion are called
factors.
Colour blindne ss : John Dalton was the 1st
scientest to take academ ic interest in the subject of
colour blindne ss and that's why colour blindne ss is
also called daltoni sm. The affected person can not
disting uish the red and green colours. It is basical ly a
genetic conditi on caused by a difference in how one or
more of the light sensitiv e cells found in the retina of
the eye respon d to certain colours. These cells called
cones which have light sensitiv e pigmen ts that enable
the retina to disting uish the red and green colours.
The colour blindne ss can be mild, modera te or severe
depend ing upon the defect. If anyone has inherite d
colour blindne ss then the sufferin g person will stay on
the same conditi on through out the life.
Haemo philia : The haemop hilia is a rare condition
that affects the blood's ability to clot and it is usually
inherit ed and most people who have it are male. The
pe~ple with haemop hilia don't have as many clotting
factors as there should be in the blood. Thus bleedin g
occurs longer than usual and that's why it is also called
Bleeder's disease . The main sympto m of this disease is
bleedin g that doesn't stop and also called prolong ed
bleedin g. Thus the haemop hilia is a mostly inherite d
genetic disorde r that impairs the body's ability to make
blood clots.
Sickle cell anemia : A group of blood disorde rs
typicall y inherite d from a person' s parents that cause
red blood cells (RBC) to become mishap en and break
down occurs in sickle cell anemia.
Down's Syndro me : The Down's syndro me is
a conditi on in which a child is born with an extra
copy of their 21st chromosome, that's why it is also
called triso~y 21. This causes physica l and mental
develop mental delays and disabilities. In all cases of
human reprodu ction, both parents pass their genes
on to their childre n which 'are carried forward by the
chromosomes. When the baby's cells develop , each cell
is suppos ed to receive 23 pairs of chromo somes (46
chromosomes). But in children with down's syndrome,
one of the chromosomes doesn't separate properly. The
baby ends up with three copies or an extra particle
copy of chromo some 21, instead of 2. This extra
chromosome causes problems as the brain and physical
features develop. That's why the persons suffering of
Down's syndrome are of short height and stupid. This
syndrom e is also called Mongoloid Idiocy, Mongolism
or Mongoloid.
Klinefelter's Syndrome : The Klinefelter's syndrome
is a genetic disorde r that affects males. This syndro me
occurs when a male is born with one or more extra
X chromo somes which causes infertility in the males.
Actuall y in this syndro me the born male has smaller
testes in which sperm doesn't generat e and infertility
develop es.
 Turner's Syndrom e : In 1938 Henry Turner
describe d Turner's syndrom e which is an abnorma lity
in the X chromos ome of females and it makes the female
infertile . Thus this syndrom e is basically conside red
as a genetic disorder but not usually inherite d in
the families. This syndrom e occurs when one of the
two X chromos omes normall y found in the female
is missing or incompl ete. Althoug h the exact cause
of this syndrom e is not known. The females of this
syndrom e have short height and their sex organs are
less develop ed.
Phenylk etonuria : The phenylk etonuria a rare
inherite d disorder which is conside red an inborn error
of amino acid metabol ism. The protein like amino
acid is the building blocks of the body and its lacking
causes the disease. This disease is also common ly
known as phenyla lanine hydroxy lase deficien cy
and infact it is the most common in born error of
amino acid, metabol ism. Due to the deficien cy of the
enzyme phenyla lanine hydroxy lase (PAH) impairs the
body's ability to metabol ize the essentia l amino acid
phenyla lanine.
Intellegence Quotien t (IQ) :An intelligence.quotient
is a total score derived from several standard ized tests
designe d to asses to human intelligence. This is basically
a measure of the intelligence of an individu al derived
from the results obtained from the specially designe d
tests. The quotien t is tradition ally derived by dividing
an individu al's mental age by his chronolo gical age
(real age) and multiply ing the result by 100.
Thus it is a number and it is expresse d as below.
v1r
.lj,LY,e
lli"Hi
•~
•gence
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Transcri ption : The process of making a RNA
(rebonu cleic acid) copy of a DNA (deoxyri bonucle ic
add) molecule, called transcrip tion which is necessary
for all forms of life.
Translat ion : The translati on is a cellular process
in which messeng er RNA (mRNA) is decoded in a
ribosom e, outside the nucleus to produce a specific
amino acid chain (polypep tide). The polypep tide later
folds into an active protein and perform s its function
in the cell. The entire process is called gene expressi on.