INHERITANCE1784978603

Inheritance
Prof. Dr. K. S. Basnet
1
• Explain Mendelian inheritance and correlate
with autosomal and sex linked dominant and
recessive diseases.
• At the end of the class students should be able

to
– Recall Mendelian inheritance
– Define dominant and recessive traits
– Enumerate sex linked genetic disorders.
2
Genetics
• Science of inheritance.
• Gene is the biochemical instruction on DNA

molecule.
• Gene is located in a particular site on chromosome

called locus.
• Gene can be manipulated by genetic engineering.

3
Original principles of Mendelian inheritance
• Genes come in pairs, one inherited from each parent

UNIT INHERITANCE
• Individual genes have different alleles which can act in a

dominant or recessive fashion
• During meiosis segregation of alleles occurs so that each

gamete receives only one allele SEGREGATION
• Alleles at different loci segregate independently

INDEPENDENT ASSORTMENT
Exceptions
• Incomplete dominance: blending of traits to

produce intermediate character e.g. Rr
producing pink flower.
• Quantitative inheritance: skin color is

determined by more than one pair of gene.
Cumulative effect will produce the color.
5
Exceptions
• Multiple alleles: gene with multiple alleles

controlling a trait e.g. Blood group by IA, IB and
i.
• Gene linkage: gene very close to each other on

a same chromosome can pass together. Such
inheritance is called linked.
6
INHERITANCE
UNIFACTORIAL INHERITANCE
• Defect in a single gene.
• Follows Mendelian’s law.
7
INHERITANCE
Types
1.Autosomal
• D
• R
2.Sex linked
• D
• R
8
AUTODSSDOMAL
9
DOMINANT
Autosomal DOMINANT
• Dominant trait is manifested in heterozygote.
• Normal and abnormal genes are present.
• One mutant gene is sufficient to produce the character.
10
Autosomal DOMINANT
• Normal and abnormal genes are called alleles.
• An affected parent is always present.
• Sometimes due to new mutation.
• Severe case is either infertile or die during childhood.
11
Characteristics of autosomal dominant inheritance
• Males and females equally affected
• Disorder transmitted by both sexes
• Successive generations are affected

Late onset disorders
• Dominant disorders may have a late or variable

age of onset of signs and symptoms.
• People who inherit the defective gene will be

destined to become affected, but may remain
asymptomatic well into adult life.
• New mutations are common in some disorders
like achondroplasia, neurofibromatosis etc.
• Homozygosity for dominant genes is uncommon
but not impossible.
• Occurring only when two people with the same

disorder have children together.
AUTOSOMAL
RECESSIVE 16
Characteristics of autosomal recessive
inheritance
• Males and females equally affected
• Both parents are unaffected carriers
• Two out of three unaffected siblings are carriers

Examples of autosomal recessive disorders
• Congenital adrenal hyperplasia
• Cystic fibrosis
• Thalassaemia
• Haemochromatosis ...
Sex linked inheritance
• Genes are on sex chromosome.
• Conditions are determined by such genes.
TYPES
Y-linked and X-linked
19
Y-linked
• Only males are affected.
• Sons of affected male inherit the trait.

e.g. Hairy ear.
20
X-linked
Can be dominant or recessive.
Dominant
• Affected female gives mutant gene to half of the

offspring male or female.
• Affected male gives the mutant gene to his all

daughters.
• Vitamin D resistant rickets.
21
X-LINKED RECESSIVE 22
23
Characteristics of X linked recessive inheritance
• Males affected almost exclusively
• Homozygos females
• Only one X chromosome e.g. Turner’s

syndrome (XO)
• Manifesting heterozygotes- normal X

inactivation.
Characteristics of X linked recessive inheritance
• Transmission through carrier females
• Male to male transmission does not occur
• All daughters of affected males are carriers

Examples of X linked recessive disorders
• Anhidrotic ectodermal dysplasia
• Color blindness
• Duchenne muscular dystrophy
• Fragile X syndrome
• Haemophilia A, B
27

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Inheritance

Prof. Dr. K. S. Basnet

• At the end of the class students should be able

• Gene is the biochemical instruction on DNA

• Gene is located in a particular site on chromosome

• Gene can be manipulated by genetic engineering.

• Genes come in pairs, one inherited from each parent

• Individual genes have different alleles which can act in a

• During meiosis segregation of alleles occurs so that each

• Alleles at different loci segregate independently

• Incomplete dominance: blending of traits to

• Quantitative inheritance: skin color is

• Multiple alleles: gene with multiple alleles

• Gene linkage: gene very close to each other on

• Defect in a single gene.

• Follows Mendelian’s law.

• Dominant trait is manifested in heterozygote.

• Normal and abnormal genes are present.

• One mutant gene is sufficient to produce the character.

• Normal and abnormal genes are called alleles.

• An affected parent is always present.

• Sometimes due to new mutation.

• Severe case is either infertile or die during childhood.

• Males and females equally affected

• Disorder transmitted by both sexes

• Successive generations are affected

• Dominant disorders may have a late or variable

• People who inherit the defective gene will be

• Occurring only when two people with the same

• Males and females equally affected

• Both parents are unaffected carriers

• Two out of three unaffected siblings are carriers

• Congenital adrenal hyperplasia

• Conditions are determined by such genes.

• Only males are affected.

• Sons of affected male inherit the trait.

Can be dominant or recessive.

• Affected female gives mutant gene to half of the

• Affected male gives the mutant gene to his all

• Vitamin D resistant rickets.

• Males affected almost exclusively

• Only one X chromosome e.g. Turner’s

• Manifesting heterozygotes- normal X

• Transmission through carrier females

• Male to male transmission does not occur

• All daughters of affected males are carriers

• Anhidrotic ectodermal dysplasia

• Duchenne muscular dystrophy

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