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Aryan

The document discusses different types of mutations and genetic disorders. It defines point mutations and frameshift mutations as types of mutations that can occur at the DNA level. It then describes several genetic disorders that can result from mutations, including sickle cell anemia, hemophilia, color blindness, cystic fibrosis, and sickle cell disease. The document also discusses chromosomal abnormalities like Down syndrome, Klinefelter syndrome, and Turner syndrome that are caused by gains or losses of whole chromosomes. It explains how pedigree analysis is used to study the inheritance of genetic traits and disorders in families.

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Harshit Mishra
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77 views22 pages

Aryan

The document discusses different types of mutations and genetic disorders. It defines point mutations and frameshift mutations as types of mutations that can occur at the DNA level. It then describes several genetic disorders that can result from mutations, including sickle cell anemia, hemophilia, color blindness, cystic fibrosis, and sickle cell disease. The document also discusses chromosomal abnormalities like Down syndrome, Klinefelter syndrome, and Turner syndrome that are caused by gains or losses of whole chromosomes. It explains how pedigree analysis is used to study the inheritance of genetic traits and disorders in families.

Uploaded by

Harshit Mishra
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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• It is a sudden heritable change occurring in DNA

sequences that results changes in the genotype


and phenotype of an organism

•Recombination and mutation leads to variation in


DNA

Point
Types of mutation
mutation
Frame shift
mutation
• It is the mutation due to change in
a single base pair of DNA

•Eg. Sickle cell anaemia


• It is the deletion or insertion of base pairs resulting in the shifting of DNA sequesncea.

• Loss (deletion) or gain (insertion/duplication) of DNA segment cause Chromosomal


abnormalities (aberrations).

• Chromosomal aberrations are seen in cancer cells.


Mutagens are the agents that induce mutation

Types of mutagens

Chemical
Physical Mutagens
Mutagens Mustard gas,
UV radiation phenol,formalin,
α,β,γ rays, acetic acid,
X-ray etc. Formic acid etc
• In human, control crosses are not possible. So the study of family history about
inheritance is used

•Such an analysis of genetic traits in several generations of a family is called pedigree


analysis.

•The representation or chart showing family history is called family tree(pedigree).


•In human genetics, pedigree study is utilized to trace the inheritance of a specific trait,
abnormality or disease
• Mendelian disorders
may be dominant or
recessive

•Pedigree analysis helps


to understand whether
the trait is dominant or
recessive
• Sex linked (X-linked) recessive disease

• In this, a protein involved in the blood clothing is


affected.

• A simple cut results in non-stop bleeding

• It is controlled by a pair of allele, H & h.

• H is normal allele and h is responsible for haemophilia.


• It is a sex-linked (X-linked) recessive disorder due to defect in either red or
green cone of eye. It results in failure to discriminate between red and
green colour.

• It is due to mutation in some genes in X chromosome.

• It occurs in 8% of moles and only 0.4% of females. This is due to the genes
are X-linked.
• This is an autosome linked recessive
trait.

• It can br transmitted from parents to


the offspring when both the partners are
carrier (heterozygous) for the gene.

•The disease is controlled by a pair of


allele, HbA & Hb5
• It is an autosoma-linked recessive
blood disease
• It is transmitted from unaffected
carrire (heterozygous) parents to the
offspring.
• It is due to mutation or delection
• It results in reduced synthesis of one
of the α or β globin chains or
haemoglobin. It forms abnormal
haemoglobin and cause anaemia
The disorders caused due to absence or excess or
abnormal arrangement of one or more
chromosomes
ItIt isisthe
the gain
gain or
orloss
lossof
of chromosomes
chromosomes
due
due to tofailure
failure of
of segregation
segregationof of
chromatids
chromatids during during cell
cell division
division

• •ItItisisan
anincrese
increasein in a whole
a whole setset
of
of chromosomes
chromosomes duedue to failure
to failure of
of cytokinesis
cytokinesis afterafter telophase
telophase stage
ofstage of cell division
cell division

• •This
Thisisisvery
veryrare
rareininhuman
humanbut
but
ofterseen
ofter seenininplants
plants
• It is the presence of an additional copy of chromosome number 21 (trisomy of 21).

•Genectic constitution: 45 A + XX or 45 A + XY (i.e. 47 chromosomes).


• It is the presence of an additional copy of X-chromosome in male
•Genetic constitution: 44 A + XXY (i.e 47 chromosomes).
• It is the absence of one X chromosome in female
• Genetic constitution: 44 A + X0 (i.e. 45 chromosomes).

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