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GENETICS—01
MUTATION
The term “Mutation” was given by Hugo de Vries, who carried out his
experiment on Oenothera lamarckiana [evening primrose plant]. He is known
as “Father of mutation”
Darwin used the term “Sports” for mutation
Bateson termed the mutation as “discontinuous variation”. He is also
known as “Father of modern genetics”
Definition of mutation: It can be defined as the appearance of those
characters in the offspring which were not present in the parents or
disappearance of those characters in the offspring, which were present in the
parents OR “sudden change in the gene or chromosome” in offspring
NCERT
Mutation is a phenomenon which results in alteration of DNA sequences and
consequently results in changes in the genotype and the phenotype of an
organism
In addition to recombination due to crossing over of meiosis during
gametogenesis, mutation is another phenomenon that leads to variation in DNA
The process of occurrence of mutation is known as Mutagenesis, and the
offspring in which mutation has been caused is known as Mutant. The
mutation causing agent is known as mutagen
NCERT
There are many chemical and physical factors that induce mutations. These are
referred to as mutagens. UV radiations can cause mutations in organisms – it is a
mutagen
Mutation can also be caused in one’s lifespan due to defect in mitosis when
the gene becomes malfunctioning in daughter cells, and is changed to
oncogene [cancer causing gene], resultantly a normal cell is transformed to
cancerous cell that develops cancerous tumour. This is carcinogenic or
somatic mutation, which is non-inheritable
CHROMOSOMAL DISORDER—NCERT
The chromosomal disorders are caused due to absence or excess or abnormal
arrangement of one or more chromosomes
Failure of cytokinesis after telophase stage of cell division results in an increase in a
whole set of chromosomes in an organism and, this phenomenon is known as
polyploidy. This condition is often seen in plants
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GENETICS—01
not normally observed in animals, as the polyploidic embryo dies prenatally
Failure of segregation of chromatids during cell division cycle results in the gain or
loss of a chromosome(s), called aneuploidy
Sometimes, though rarely, either an additional copy of a chromosome may be
included in an individual [Trisomy ] or an individual may lack one of any one pair of
chromosomes [Monosomy]
Such situation leads to very serious consequences in the individual
Down’s syndrome
The cause of this genetic disorder is the presence of an additional copy of the
chromosome number 21 (trisomy of 21)
The disorder was first described by Langdon Down (1866)
Symptoms
b) Edward syndrome
It is 18-trisomy [Trisomy 18], indicating that 18th chromosome
is in three copies
It exhibits 2n+1=47 condition
The patient is characterised by following symptoms
Severe cardio-vascular disorder
Hare lip / clefted upper lip mijh vksaB dVk gqvk
May or may not have polydactylism [more than five digits
in one hand or foot]
Patient usually dies in early age
c) Patau syndrome
It is 13-trisomy [Trisomy 13], indicating that 13th chromosome
is in three copies
It exhibits 2n+1=47 condition
The patient is characterised by following symptoms
Severe cardio-vascular disorder
Hare lip / clefted upper lip
Essentially polydactylism [,d gkFk esa ikap ls vf/kd
maxfy;ka] is observed
Patient usually dies in early age
B. Sex-chromosomal aneuploidic disorders: These disorders are
resulted due to the change in the number of sex-chromosomes /
Allosomes / Heterosomes within genome