Biology 1 Lecture 6

Bio 1

Laws of inheritance &

Patterns of Inheritance

Michael C. Velarde, Ph.D.

Genetics
•branch of biology concerned with
gene inheritance (heredity) and gene
variation

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Biology 1 Lecture 6

Gregor Mendel

Mendelian 1st law: Law of Segregation

Gamete formation
• Each individual has a pair of factors
(alleles) for each trait
A a
• Alleles segregate (separate) during
gamete (sperm & egg) formation A a

• One gamete = one allele

A a

A A a a

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Biology 1 Lecture 6

Mendelian 1st law: Law of Segregation

• Dominant allele (capital letter) masks the
expression of the recessive allele (lower-case)
Genotype
AA Aa aa
Homozygous Heterozygous Homozygous
Dominant Recessive

Purple Purple White

Phenotype
Homozygous = identical alleles / Heterozygous = different alleles

Mendelian 1st law: Law of Segregation

• One gamete from each parent combines after fertilization

Aa Male Aa Female

A a A a

AA Aa Aa 1
aa
1 2

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Biology 1 Lecture 6

3:1 ratio

Mendelian 1st law: Law of Segregation

Human Genetic Disorders (Hereditary Diseases)

• Autosomal genetic disorder

• Autosomal dominant
• Autosomal recessive

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Biology 1 Lecture 6

Autosomal dominant
• Huntington Disease
– neurological disorder
– caused by a trinucleotide repeat
expansion (CAG) in the Huntingtin
(Htt) gene on 4p16.3
– progressive degeneration of brain
cells
• Severe muscle spasms
• Personality disorders

One copy of the allele is

enough to cause the disease

Autosomal dominant

Male Female
Hh Hh
H h H h

HH Hh Hh 1
hh
1 2
Huntington disease

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Autosomal recessive

• Cystic Fibrosis
– Thick and viscous mucus in bronchial
tubes and pancreatic ducts resulting
in frequent lung infections
– caused by a mutation in the cystic
fibrosis transmembrane conductance
regulator (CFTR) gene found on
7q31.2

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Two copies of the

allele is needed to
cause the disease
http://www.nhlbi.nih.gov

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Biology 1 Lecture 6

Autosomal recessive

Male Female
Ff Ff
F f F f

FF Ff Ff 1
ff
1 2
Cystic fibrosis

Autosomal recessive
• Phenylketonuria (PKU)
– caused by mutations at the
phenylhydroxylase (PAH) locus on
bands 12q22-24.1
– patients with PKU who are not
treated develop seizures and severe
psychologic problems, including
agoraphobia and other disorders,
have been reported

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Biology 1 Lecture 6

Autosomal recessive
• Tay-Sachs Disease
– progressive deterioration of psychomotor
functions
– the disease results from mutations on
chromosome 15 in the HEXA gene
encoding the alpha-subunit of the
lysosomal enzyme beta-N-
acetylhexosaminidase A
– harmful quantities of a fatty acid
derivative called a ganglioside accumulate
in the nerve cells of the brain

Where are alleles located?

Alleles are located in a particular

gene locus of chromosomes
A

a
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

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Biology 1 Lecture 6

Many gene loci in each chromosome

Complicated, However Medelian 2nd law states….

Mendelian 2nd law: Law of Independent Assortment

• The pair of alleles for one trait

segregate independently of
alleles for other traits

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Biology 1 Lecture 6

Mendelian 2nd law: Law of Independent Assortment

Allele 1: Color Allele 2: Shape

Cc Male Cc Female Ss Male Ss Female

C c C c S s S s

CC Cc Cc cc SS Ss Ss ss
1 2 1 1 2 1

Treat separately

Exercise
Gene A is dominant for colored/ gene a is recessive for albino
Gene D is dominant for hearing/ gene d is recessive for deafness

Albino with Albino and deaf

normal hearing
aaDD Father Mother aadd
aaDd Will all children be albino or deaf or both?

aaDD X aadd
Possible progeny? aaDd Albino with normal hearing

aaDd X aadd
Possible progeny? aaDd aadd Albino with normal hearing or Albino and deaf

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Other Inheritance Patterns

Incomplete Dominance

one allele does not

completely dominate
another allele, and therefore
results in a new phenotype.

Petal Color

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Other Inheritance Patterns

Human Blood type
Codominance

Both alleles
contribute to the
phenotype of the
heterozygote

• IA and IB are
codominant while
IO is recessive

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Other Inheritance Patterns

Codominance
Inheritance of
Blood Type

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Other Inheritance Patterns

Labrador Retriever

Epistasis
effect of one gene being
dependent on the
presence of one or
more 'modifier genes'
(genetic background)

Black (B) is dominant to chocolate (b)

Yellow (ee) is recessive epistatic

(blocks the expression of the black and
chocolate alleles)

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Other Inheritance Patterns

Sex-Linked
The gene is located in the sex chromosome (allosome)
X-linked gene

Dominant: Phenotype is seen in males & females if gene XA is present

Recessive: Phenotype is seen in female if homozygous for gene Xa; Phenotype is seen in
male if gene Xa is present
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Other Inheritance Patterns

Sex-Linked

Y-linked gene
Father’s phenotype will
pass onto male
offspring

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X-Linked Recessive

Red-Green Color Blindness

- the gene for blue-sensitive is
autosomal
- the red-sensitive and green-
sensitive genes are on the X
chromosome

Color vision in humans:

• depends on three different classes of cone cells in the retina
• only one type of pigment is present in each class of cone cell

Red-Green Colorblindness Chart

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Biology 1 Lecture 6

X-Linked Recessive

Lubag Syndrome
– X-linked dystonia parkinsonism
(XDP)
– adult-onset, progressive,
debilitating movement disorder
unique to adult men with ancestry
from Panay
– result from a mutation of the TAF1
(TATA-binding protein-associated
factor 1) gene at Xq13.1
The mean age of onset in men is 39 years, with a range of 12 to 64 years
Rosales RL. Journal of Movement Disorders (2010)3:32-38. J Clin Pathol:Mol Pathol 2001;54:362–368

Other Inheritance Patterns

Sex-Influenced
The gene is located in the autosome (any chromosome other
than sex chromosomes) but traits are affected by sex

AA AA
Bald
Aa Aa
aa aa Bald

Males Females

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Other Inheritance Patterns

Sex-limited
Gene is present in both
sexes of sexually reproducing
species but are expressed in
only one sex and remain
'turned off' in the other.

Other Inheritance Patterns

Pleiotropy

One gene control several traits

Cell proliferation gene

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Other Inheritance Patterns

Gene X
Polygenic Gene Y Trait 1
Several genes control one trait Gene Z

Height and color in Human Beings

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Paternity Test

DNA fingerprinting is a test to identify

and evaluate the genetic information
in a person's cells

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Biology 1 Lecture 6

Paternity Test
DNA fingerprinting

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