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GRACIOUS COLLEGE OF NURSING
SEX LINKED INHERITANCE AND ERRORS IN
TRANSMISSIONS ( MUTATION )
TRANSMISSIONS ( MUTATION )
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR
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
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.
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
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 )
ERROR OF TRANSMISSION
( MUTATION )
( MUTATION )
GENE MUTATION
Changes in the number and
arrangement of nitrogen base
arrangement of nitrogen base
sequence is called gene mutation or
molecular mutation
Each gene located in
nucleotides acid and particular
role in DNA and RNA and any
role in DNA and RNA and any
correction in nucleotides acid
sequence It is called error of
transmission
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 )
TYPES OF ERROR OF
TRANSMISSION
TRANSMISSION
( MUTATION )
1. Spontaneous – lead in self due to caused
environment factor eg. 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 .
Etiology
1. Physical – environmental factors such as high
temperature UV ,radiation caused
defect to genes
sequence located Nucleic acid in DNA and RNA and
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
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
1. INVERSION MUTATION
A chromosomal defect in which a segment of the
chromosome breaks off and reattaches in the reverse
direction.
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
. Substitution
There 2 types
There 2 types
1. Transition
A transition mutation is a point mutation that
changes a purine nucleotide to another purine
changes a purine nucleotide to another purine
(purine is adenine and guanine) have a two-ringed
structure in DNA (A ↔ G) or a pyrimidine
nucleotide ( pyrimidines are cytosine, thymine, and
uracil. ) to another pyrimidine (C ↔ T). Change in
Same nucleotide )
2 . Transverse mutation
The kind of base substitution in
which a change in the DNA sequence
is induced when purine base (A, G) is
is induced when purine base (A, G) is
substituted by pyrimidine base
( pyrimidines are cytosine, thymine, and uracil. )
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.
example of a missense mutation is sickle-cell anemia, a
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 the DNA. This
missense mutation calls for a different amino acid, and
affects the overall shape of the protein produced.
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
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,
4
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,
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sex linked inheritance error of transmission.pdf

  • 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.
  • 4.
  • 5.
  • 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 role in DNA and RNA and any correction in nucleotides acid sequence It is called error of transmission
  • 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 eg. 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 .
  • 15. 1. Physical – environmental factors such as high temperature UV ,radiation caused defect to genes sequence located Nucleic acid in DNA and RNA and 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. 1. INVERSION MUTATION A chromosomal defect in which a segment of the chromosome breaks off and reattaches in the reverse direction.
  • 18. 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
  • 19. . Substitution There 2 types There 2 types
  • 20. 1. Transition A transition mutation is a point mutation that changes a purine nucleotide to another purine changes a purine nucleotide to another purine (purine is adenine and guanine) have a two-ringed structure in DNA (A ↔ G) or a pyrimidine nucleotide ( pyrimidines are cytosine, thymine, and uracil. ) to another pyrimidine (C ↔ T). Change in Same nucleotide )
  • 21. 2 . Transverse mutation The kind of base substitution in which a change in the DNA sequence is induced when purine base (A, G) is is induced when purine base (A, G) is substituted by pyrimidine base ( pyrimidines are cytosine, thymine, and uracil. )
  • 22. 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. example of a missense mutation is sickle-cell anemia, a 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 the DNA. This missense mutation calls for a different amino acid, and affects the overall shape of the protein produced.
  • 23. 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
  • 24. 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,
  • 25. 4
  • 26. 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,