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DS CLASSES GROUP

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

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DS CLASSES GROUP
GENETICS—01
 Cancer causing agent is known as Carcinogen, and since carcinogen is a
type of mutagen so “all mutagens are not carcinogen but all carcinogens
are essentially mutagens”
 Types of Mutations: There are 2 types of mutations on the basis of impact on
the body
1. Macromutation / Chromosomal mutation / xq.klw=h; mRifjorZu
2. Micromutation / Gene mutation
MACROMUTATION / CHROMOSOMAL MUTATION /
CHROMOSOMAL ABERRATION / CHROMOSOMAL DISORDER
 It is caused due to the change either in the number [Quantitative
mutation] or in structure [Qualitative mutation] of chromosome, and
since both these defects leave harmful impact at large scale on the body of
patient, so they are referred to as macromutation
QUANTITATIVE CHROMOSOMAL DISORDER
 It is observed in the form of polyploidy [change in the complete set of
chromosome] / cgqxqf.krk or aneuploidy [change within single set of
chromosome / Genome], and both of them are resulted due to non-
disjunction / non-separation / non-segregation of chromosomes during
Anaphase-I of gametogenesis [mostly during oogenesis in the female
above 35 years of age]
 Aneuploidy may be observed in the form of Monosomy [presence of one
chromosome of the pair] or trisomy [presence of three copies, instead of
normal two, of a particular chromosome]

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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DS CLASSES GROUP
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

 The affected individual is short statured with small round head


 Furrowed tongue which is protruding through partially open mouth
 Palm is broad with characteristic palm crease
Palm crease / Simian crease: One horizontal line on the palm instead
of normal two

 Physical, psychomotor and mental development is retarded

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GENETICS—01
 Klinefelter’s Syndrome
 This genetic disorder is also caused due to the presence of an additional copy
of X-chromosome resulting into a karyotype of 47, XXY
 The individual has overall masculine development, however, the feminine
development (development of breast, i.e., Gynaecomastia) is also
expressed
 They are sterile
 Turner’s syndrome
 It is caused due to the absence or loss of one of the X chromosomes, i.e., 45
in female with X0
 The females are sterile as ovaries are rudimentary besides other features
including lack of other secondary sexual characters

A. Autosomal aneuploidic disorder: These disorders are resulted due to


the change in the number of autosomes [all the chromosomes other
than sex-chromosome are autosomes] within genome
a) Down’s syndrome / Mongolism / Mongolian idiocy
 It is 21-trisomy [Trisomy 21], indicating that 21st chromosome
is in three copies
 It exhibits 2n+1=47 condition
 The patient is characterised by following symptoms
 Upward slanting eyes [Like Mongols]
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 Low Intelligence Quotient / IQ is below 50
 Intelligence Quotient [IQ] is the percentage ratio of
mental age to chronological age [actual age]

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

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GENETICS—01
a) Turner’s syndrome
 It is sex-chromosomal monosomy
 It exhibits XO-condition with 2n—1=45
 It is a female patient, who is characterised by following
symptoms
 Webbed neck
 No Barr body
 Number of X-chromosomes—1= Number of Barr bodies
b) Klinefelter’s syndrome
 It is sex-chromosomal trisomy
 XXY-condition with 2n+1=47
 It is a male patient, who is characterised by following
symptoms
 Sparsely distributed hair on the body ‘
 Absence of moustache and beard
 Reduced libido [sexual desire for intercourse]
 Ratio of arms and legs is 1:2 [normal ratio is 2:3] due to
longer legs
 One Barr body
c) Super female / Meta female
 It is also sex-chromosomal trisomy
 XXX-condition with 2n+1=47
 It is a female patient, who is characterised by excessively
developed feminine characters, like enlarged uterus, ovaries,
breasts and external genitalia where Clitoris [most sensitive
sexual part of female’s body] may be of the size of penis
 Two Barr bodies
 Fertile
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DS CLASSES GROUP
GENETICS—01
d) Super male / Meta male / Jacob’s syndrome / Criminal
syndrome
 It is also sex-chromosomal trisomy
 XYY-condition with 2n+1=47
 It is a male, who is characterised by following symptoms
 Excessively developed masculine characters like taller body,
enlarged genial organs
 Raised libido
 Excessive hair growth on the body
 Relatively more pimples [Acne] on the face
 Aggressive behavior to an extent to become criminal
 Fertile
 No Barr body, however, F-body/ F-spot is seen, which is
stained Y-chromosome by a fluorescent Quinacrine dye
QUALITATIVE CHROMOSOMAL DISORDER
 The number of chromosomes in an offspring remains the same as that of
parents but the abnormality is observed in their structure, which is
caused due to deletion of arm or translocation [crossing over between
two non-homologous chromosomes] of chromosomes. Some of the notable
disorders are given below
A. Cri-du-chat syndrome / Cat cry syndrome
 It is the deletion mutation in p-arm [short arm] of chromosome
no. 5
 The patient is characterised by severe cardio-vascular disorder and
kitten-like cry
 Dies in early age

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DS CLASSES GROUP
GENETICS—01
B. Prader-Willi syndrome / Angelman syndrome / Happy puppet
syndrome
 It is caused by deletion in q-arm [long arm] of chromosome no.
15
 It is characterised by Ataxia [discoordinated movement of arms],
Nystagmus [dancing eyeball] and frequent burst of laughter
C. Philadelphia syndrome / Chronic myelogenous leukemia[CML]
 It is caused due to reciprocal translocation of the arm of
chromosome no. 9 and chromosome no 22, resulting into
formation of an oncogene on chromosome no. 22 that produces
blood cancer by the age of 21 years
22nd chromosome is the smallest chromosome [next to Y-
chromosome] of human body. It is also the first chromosome to
be completely sequenced [genes were discovered] by HUGO /
HGP
ADDITIONAL TO REMEMBER
 Human genome carries 30,000 genes [3X109], and almost
99.9% nucleotide bases are exactly the same in all peoples
 The average gene consists of 3000 bases, but sizes vary greatly,
with the largest known human gene being dystrophin at 2.4
million bases [2400Kbp]
 1st chromosome is the longest chromosome, carrying 2968
genes [smallest chromosome is Y-chromosome with only 231
genes]
Caenorhabditis elegans [Nematode] is the 1st animal to be
completely sequenced [lHkh thu Kkr dj fy, x,]
 Arabidopsis is the first plant to be completely sequenced

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DS CLASSES GROUP
GENETICS—01

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