OM VERMA ASSOCIATE PROFESSOR GRACIOUS COLLEGE OF NURSING ABHANPUR RAIPUR C.G

1. GRACIOUS COLLEGE OF NURSING
SEX LINKED INHERITANCE AND ERRORS IN
TRANSMISSIONS ( MUTATION )
TRANSMISSIONS ( MUTATION )
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

2. INTRODUCTION
Sex linkage inheritance was first discovered
by the Thomas Morgan (First experiment to
drosophia fly )
Male are heterogamete because they have 2
Male are heterogamete because they have 2
different sex chromosomes XY and female
are homogamate because they have 2 same
sex chromosomes

3. The X chromosomes is significantly longer
than the Y chromosomes and this X
chromosomes contain thousand more gene.
The Y chromosomes have few gene
comparison to the X chromosomes.

6. X-linked dominant inheritance
Refers to genetic conditions associated
with mutations in genes on the X
chromosome. A single copy of the mutation
chromosome. A single copy of the mutation
is enough to cause the disease in both males
(who have one X chromosome) and females
(who have two X chromosomes).
Only affected girls

7. X-linked recessive inheritance
Refers to genetic conditions associated with mutations in
genes on the X chromosome. A male carrying such a
mutation will be affected, because he carries only one X
mutation will be affected, because he carries only one X
chromosome. A female carrying a mutation in one gene, with
a normal gene on the other X chromosome, is generally
unaffected. ( Affected both girls and boys but boys sever
affected )

8. ERROR OF TRANSMISSION
( MUTATION )
( MUTATION )

9. GENE MUTATION
Changes in the number and
arrangement of nitrogen base
arrangement of nitrogen base
sequence is called gene mutation or
molecular mutation

10. Each gene located in nucleotides acid and
particular role in DNA and RNA and any
correction in nucleotides acid sequence It
is called error of transmission .
is called error of transmission .
According to Adam Rutherford

11. RNA Ribonucleotide bases: adenine (A), cytosine (C),
guanine (G), and uracil (U).
DNA Deoxyribonucleic acid Bases - is a polymer of the four
nucleotides A, C, G, and T,
adenine (A), cytosine (C), guanine , thymine (T)
adenine (A), cytosine (C), guanine , thymine (T)
Uracil (U) present in RNA Change ( replace ) in DNA
thymine (T) then lead the error of transmission ( mutation )

12. TYPES OF ERROR OF
TRANSMISSION
TRANSMISSION
( MUTATION )

13. 1. Spontaneous – lead in self due to caused
environment factor e.g. Radiation
2. Induced - A mutagene is a physical or
chemical agent that permanently
chemical agent that permanently
changes genetic material, usually DNA, in
an organism it is used in correction for
affected gene to lead the error of gene
mutation .

14. Etiology

15. 1. Physical – environmental factors such as high
temperature UV ,radiation caused
defect to genes
sequence located Nucleic acid in DNA and RNA and
there particular role are effected
And hydrogen bonding in separation
Then lead the error of transmission

16. 1. CHEMICAL Chemotherapy drugs harm full
chemical
defect to genes
Disturbance of sequence in Nucleic acid
And hydrogen bonding in separation
Then lead the error of transmission

17. MECHANISM
ERROR OF TRANSMISSION
ERROR OF TRANSMISSION

18. 1. INVERSION MUTATION
A chromosomal defect in which a segment of the
chromosome breaks off and reattaches in the reverse
direction. Abnormal base of sequence nucleic acids
Reverse direction.

19. 2. SUBSTITUTION,
A s related to genomics, is a type of mutation in
which one nucleotide is replaced by a different
nucleotide. The term can also refer to the
replacement of one amino acid in a protein with a
replacement of one amino acid in a protein with a
different amino acid.
original
Replaced

20. . Substitution
There 2 types
There 2 types

21. SUBSTITUTION CONCEPT
The purine bases are guanine (G) and
adenine (A)
adenine (A)
Three major pyrimidines are Thymine
(T), cytosine (C), and uracil (U).

23. 1. Transition
PURINE NUCLEOTIDE A transition mutation is a
point mutation that changes a purine nucleotide to
another purine (purine is adenine and guanine)
have a two-ringed structure in DNA (A ↔ G)
have a two-ringed structure in DNA (A ↔ G)
PYRIMIDINE NUCLEOTIDE
( pyrimidines are cytosine, thymine, and uracil. ) to
another pyrimidine (C ↔ T). Change in Same
nucleotide ) (Only Replace purine to purine and
replace only pyrimidines to pyrimidines)

24. Transition E.g -
(Only Replace purine to purine and
replace only pyrimidines to pyrimidines)
Purine Base - guanine (G) adenine (A) (A ↔ G)
Pyrimidines Base thymine (T), cytosine (C), and uracil (U).
bases (C ↔ T). (U ↔ T).

25. 2 . Transverse mutation
The kind of base substitution in which a change in
the DNA sequence purine base to pyrimidine base
(A, U) And pyrimidine base to purine base (U - A)
(A, U) And pyrimidine base to purine base (U - A)
( pyrimidines are cytosine, thymine, and uracil.
( Replace Purine to pyrimidine Both pyrimiding replace
the purine )

26. Transverse mutation
( Replace Purine to pyrimidine Both pyrimiding
replace the purine )
Purine Bases are guanine (G) and adenine (A)
Purine Bases are guanine (G) and adenine (A)
Pyrimidines Bases thymine (T), cytosine (C), and uracil (U).
(G ↔ T). (A ↔ U).

27. 3. MISSENSE –
A genetic alteration in which a single base pair
substitution alters the genetic code in a way that produces
an amino acid that is different from the usual amino acid
at that position. ( Code missense )
E.g. – CAG- CAG-CAG Normal sequence DNA
CAG- CAG- CCAG Missense code
Lead genetic abnormality

28. example of a missense mutation
is sickle-cell anemia, a blood disease.
People with sickle-cell anemia have a
missense mutation at a single point in
missense mutation at a single point in
the DNA. This missense mutation calls
for a different amino acid, and affects
the overall shape of the protein
produced.

29. 4. NON SENSE MUTATION
Abnormal correction and
sequence in gene protein code
sequence in gene protein code
a genetic alteration that causes
the premature termination of a
protein

30. NON SENSE MUTATION
E.g.- CAG – C A G – CAG Normal sequence DNA
CAG - T A G - CAG ( NON SENSE MUTATION )
CAG - T A G - CAG ( NON SENSE MUTATION )
(cytosine replaced thymine )

31. 5. BASE INSERSION MUTATION
An insertion, as related to genomics,
is a type of mutation that involves
the addition of one or more
the addition of one or more
nucleotides into a segment of DNA.
An insertion can involve the addition
of any number of nucleotides,

32. 4
Extra sequence added

33. 6. BASE DELETION MUTATION
A deletion, as related to genomics, is a
type of mutation that involves the
loss of one or more nucleotides from
loss of one or more nucleotides from
a segment of DNA. A deletion can
involve the loss of any number of
nucleotides,