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PATTERNS OF INHERITANCE
DEFINITIONS
 Phenotype: The physical, biochemical & physiological
appearance of an individual, produced by interaction of

genotype & environment.
 Genotype: The genetic constitution of an individual (
Genome ).
 Inheritance: Passing of genetic features to the next
generation
 HOMOZYGOUS: An individual with identical alleles at a
particular locus on a pair of homologous chromosomes.
 HETEROZYGOUS: An individual with different alleles at a
particular locus on a pair of homologous chromosomes

 DOMINANT: A trait that is expressed in an individual even
when they are heterozygous for a particular gene.
 RECESSIVE: A trait that is expressed in homozygotes only
for a particular gene, but not in heterozygotes.
 CO -DOMINANT: Both the features are seen equally in the
heterozygotes
Sl. No. CHARACTER DOMINANT RECESSIVE
1 Height of Plant Tall Dwarf
2 Flower Colour Red White
3 Flower Position Terminal Axial
4 Pod Colour Yellow Green
5 Pod Inflated Constricted
6 Seed Texture Round Wrinkled
7 Cotyledon Colour Yellow Green

LAW OF UNIT INHERITANCE
 In premendalian era there was a concept that characters of parents
blend in offsprings.
 Mendel suggested that characters do not blend.
 If they do not express in 1st generation they an reappear without
change in subsequent generation.
 When two homozygotes with different alleles are crossed, all of
the offspring in the F1 generation are identical and heterozygous.

LAW OF SEGREGATION
 Members of a gene pair segregate and pass to different
gametes.
 Never found in the same gamete except in non- disjunction.
LAW OF INDEPENDENT ASSORTMENT
 Members of different gene pairs assort independently of one
another during gametogenesis.
Autosomal Dominant Inheritance
 Manifests in the heterozygous state.
 The person possesses both an abnormal or mutant allele and the

normal allele.
 Males and females affected in equal proportions
 Affected individuals in multiple generations
 Transmission by individuals of both sexes (i.e., male to male,

female to female, male to female, and female to male)
 ‘vertical’ transmission i.e., father to son transmission is observed.
PEDIGREE ANALYSIS
1. An affected person has an affected parent.
2. An affected person has normal and abnormal offsprings in
equal proportions.
3. Both males and females are equally affected.
4. Trait appears in every generation without skipping.
5. Normal children of affected person do not transmit the
disease.
Genetic risk
 Any child born to a person affected with a dominant trait or
disorder has a 1 in 2 (50%) chance of inheriting it and being

similarly affected
 Pleiotropy—a single gene that may give rise to two or more
apparently unrelated effects.

AUTOSOMAL DOMINANT DISORDERS
1. Achondroplasia.
2. Marfans syndrome.
3. Treacher collins syndrome.
4. Osteogenesis imperfecta.
Treacher Collin’s syndrome
 Mandibulofacial synostosis
 malar hypoplasia ,antimongoloid slant of palpebral fissures,
mandibular hypoplasia,
 ear abnormalities ,cleft palate ,cryptorchidism, mental
deficiency
Co-Dominance
 Co-dominance is the term used for two allelic traits that are
both expressed in the heterozygous state.
 In persons with blood group AB it is possible to demonstrate
both A and B blood group substances on the red blood cells,

so the A and B blood groups are therefore co-dominant.
Autosomal recessive inheritance
1. Trait appears in sibs and not in parents or offsprings.

2. About 25% of sibs are affected.
3. Both males and females have an equal chance of getting
affected.
4. Parents of affected may be consanguineous
5. Affected individuals usually in only a single generation
 Recessive traits and disorders are manifest only when the
mutant allele is present in a double dose (i.e.,homozygosity).

 Individuals heterozygous for such mutant alleles show no
features of the disorder and are perfectly healthy; they are
described as carriers.
 the offspring of two heterozygotes have a 1 in 4 (25%)
chance of being homozygous affected.
 examples
1. Cystic fibrosis.
2. Glycogen storage disorders
Pseudodominance
 If an individual who is homozygous for an autosomal
recessive disorder has children with a carrier of the same

disorder, their offspring have a 1 in 2 (50%) chance of being
affected.
X LINKED RECESSIVE INHERITANCE
Offspring of an affected male
Offspring of a carrier female
1. Trait affects the males.
2. Trait is transmitted from an affected male through all his
daughters to half of their sons.
3. No male to male transmission occurs since father
contributes only Y chromosome.
4. Affected males are related to each other through carrier
females.
Duchenne muscular dystrophy
X-Linked Dominant inheritance
X-Linked Dominant inheritance
 Males and females affected but often an excess of females
 Females less severely affected than males
 Affected males can transmit the disorder to their daughters

but not to sons
 e.g. fragile X syndrome
Y-Linked / holandric Inheritance
 only males affected
 affected male must transmit it to all his sons but to none of
his daughters.
 hairy ears are Y-linked traits.
Mitochondrial inheritance
 This type of inheritance applies to genes in
mitochondrial DNA
 Mitochondrial disorders can appear in every
generation of a family and can affect both males

and females, but fathers do not pass mitochondrial
traits to their children.
 E.g. Leber's hereditary optic neuropathy (LHON)

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PATTERNS OF INHERITANCE

appearance of an individual, produced by interaction of

 Genotype: The genetic constitution of an individual (

 Inheritance: Passing of genetic features to the next

particular locus on a pair of homologous chromosomes.

 HETEROZYGOUS: An individual with different alleles at a

particular locus on a pair of homologous chromosomes

 RECESSIVE: A trait that is expressed in homozygotes only

for a particular gene, but not in heterozygotes.

 CO -DOMINANT: Both the features are seen equally in the

1 Height of Plant Tall Dwarf

2 Flower Colour Red White

3 Flower Position Terminal Axial

4 Pod Colour Yellow Green

5 Pod Inflated Constricted

6 Seed Texture Round Wrinkled

7 Cotyledon Colour Yellow Green

 Mendel suggested that characters do not blend.

 If they do not express in 1st generation they an reappear without

change in subsequent generation.

 When two homozygotes with different alleles are crossed, all of

the offspring in the F1 generation are identical and heterozygous.

 The person possesses both an abnormal or mutant allele and the

 Affected individuals in multiple generations

 Transmission by individuals of both sexes (i.e., male to male,

disorder has a 1 in 2 (50%) chance of inheriting it and being

 Pleiotropy—a single gene that may give rise to two or more

apparently unrelated effects.

both expressed in the heterozygous state.

 In persons with blood group AB it is possible to demonstrate

both A and B blood group substances on the red blood cells,

1. Trait appears in sibs and not in parents or offsprings.

mutant allele is present in a double dose (i.e.,homozygosity).

 If an individual who is homozygous for an autosomal

recessive disorder has children with a carrier of the same

 Females less severely affected than males

 Affected males can transmit the disorder to their daughters

 This type of inheritance applies to genes in

 Mitochondrial disorders can appear in every

generation of a family and can affect both males

 E.g. Leber's hereditary optic neuropathy (LHON)

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