CHAPTER- 5

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PRINCIPALS OF INHERITANCE AND
VARIATIONS
.

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PEDIGREE
ANALYSIS
USES OF
PEDIGREE
ANALYSIS
1) A very important tool for studying

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human inherited diseases.
2) These diagram make it easier to
visualize relationship with in
families,particularly large extended
families.
3) Pedigrees are often used to determine
the mode of
inheritance(dominant,recessive,etc.) of
genetic disorder. 3
COLOUR BLINDNESS
SEX LINKED DISEASE.

1) It is a X-linked recessive disorder.

2) It is due to the defect in either red or

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green cone of eye resulting in failure
to discriminate between red and green
colour.
3) People like Mark Zuckerberg, Keanu
Reeves, Christopher Nolan were
affected from colour blindness.

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HAEMOPHILIA
SEX LINKED DISEASE.

1) It is a X-linked recessive disorder.

2) Due to this, in an affected individual a

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simple cut will result in non-stop
bleeding.
3) The possibility of a female becoming a
haemophilic is extremely rare.(unviable
in the later stage of life).

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BONE LESION
SEX LINKED DISEASE.

1) It is a X-linked dominant disorder.

2) Males and females are equally likely to

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be affected.
3) Often they are lethal (before birth) in
males.

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RETINITIS
PIGMENTOSA
SEX LINKED DISEASE.
1) It is a Y-linked disorder.

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2) Traits on the Y chromosome are only
found in males, never in female.
3) The father’s traits are passed to all sons.
4) Dominance is irrelevant;there is only
one copy of each Y-linked gene.

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SICKEL-CELL
ANAEMIA
Autosomal linked disease
1) It is an autosomal recessive disorder.

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2) Trait often skip generation(hidden in
heterozygous carriers.)
3) Trait affect males and females equally.
4) Other examples are Cystic fibrosis,
Phenylketonuria, Thalassemia.

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ACHONDROPLASIA
Autosomal linked disease
1) It is an autosomal dominant disorder.
2) Trait does not skip generation, since

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there is no carriers.
3) Affected individual transmit the trait to
50% of their children, regardless of sex.
4) Other examples are Huntington's disease
etc.

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SYMBOLS USED HERE:
MALE/FEMALE

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CARRIER
MALE/FEMALE

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ANSWER:
1) Both the sexes are affected.
2) Hence it is an autosomal disease.

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3) Note that there is no carrier.
4) Hence it is Dominant.
5) It might be Achondroplasia or Huntington disease
etc.

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ANSWER:
1) Both the sexes are affected.
2) Note that there is a female and male carrier.

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3) Hence it an autosomal disease.
4) Hence it is recessive.

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ANSWER:
1) Both the sexes are affected.
2) Note that there is only female carrier.

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3) Hence it an allosome X-linked disease.
4) Also it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Note that there is only female carrier.

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3) Hence it an allosome X-linked disease.
4) Also it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there are carriers.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there is carrier.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there is carrier.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there is no carrier.
4) Hence it is a dominant disease.

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ANSWER:
1) Only males are affected.
2) Hence it is a allosome disease.

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3) Since it is Y linked disorder it is not recessive or
dominant.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a allosome disease.

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3) Note that there are carriers.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there are carriers.
4) Hence it is a recessive disease.

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ANSWER:
1) Males are affected.
2) Hence it is a allosome disease.

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3) Note that there are carriers.
4) Hence it is X-linked disease
5) Also it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there is no carriers.
4) Hence it is a dominant disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a allosome disease.

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3) It is X-linked disease.
4) Note that there are carriers.
5) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are not affected.
2) Hence it is a autosomal disease.

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3) Note that there are carriers.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there are carriers.
4) Hence it is a recessive disease.

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ANSWER:
1) Both the sexes are affected.
2) Hence it is a autosome disease.

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3) Note that there is no carriers.
4) Hence it is a dominant disease.

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Thank
You
Sriram.R