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BIO310 / Genetics / NHM

Chapter 11
HUMAN GENETICS
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CHAPTER OVERVIEW
Vocabulary of
genetics

Basic concepts of
heredity

Genetic tools

Testcross
Mendelian Inheritance
Probability

Punnett square
First Law Second Law
BIO310 / Genetics / NHM

CHAPTER OVERVIEW
Sources of Dominant –recessive Multiple allele
genetic variation inheritance inheritance
Incomplete dominance Polygene inheritance

Types of inheritance Codominance Sex-linked inheritance

Pedigree analysis
Duplication
Inversion
Changes in
chromosomes structure Translocation
Deletion
LESSON OUTCOMES
At the end of this chapter, students should be ableto:
i) Defineterminologiesingenetics
ii) Describe and explainconceptsin genetics
iii) Describe and explainMendelianinheritance
iv) Describe and explaintypes of inheritance
v) Apply the genetic tools to predict the inheritance of
the traits.
vi) Describe abnormalities in chromosome number
and alteration in chromosome structure.
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BIO310 / Genetics / NHM

Dominant? SELF-CHECK
3:1?

Heterozygous?
HEREDITY
 Growth and development of a new individual is guided by
the gene-bearing chromosomes receives from its parents in
egg and sperm.
 Individual genes, or DNA segments contain “recipes” or
genetic blueprints for protein  synthesis body’s molecule.
 Genes ultimately expressed in your hair color, sex, blood
type, etc.

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BASIC CONCEPTS OF HEREDITY

VOCABULARY OF GENETICS

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Basic Concepts of Heredity (1)
VOCABULARY OF GENETICS
 Genetic = science of genes, heredity, and variation in living organisms.
 Genome = all DNA in a haploid number of chromosomes of a species

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Basic Concepts of Heredity (1)
VOCABULARY OF GENETICS
Chromosome : doubled stranded DNA
molecules that carries genetic
information.

Gene : is a stretch of DNAor RNAthat


determines a certain trait. (unit of Allele : two matched genes, which
information about heritable traits) are at same locus (location), on
homologous chromosomes.
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GENE vs ALLELE
Gene Allele
A section of DNA that
Refers to A specific variation of a gene.
controls a certain trait.

Eye color, blood type, Blue eyes, green eyes. (Eye color)
Examples A B O
skin color. I I I (Blood type)

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 Recombinant = a new combination alleles in a DNA
molecules compared to parental genotype

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a A pair of homologous
chromosomes, each in the
unduplicated state (most often, one
from a male parent and its partner
from a female parent)

b A gene locus (plural, loci), the


location for a specific gene on a
specific type of chromosome
c A pair of alleles (each being
one chemical form of a gene)
at corresponding loci on a
pair of homologous
chromosomes
d Three pairs of genes (at three
loci on this pair of homologous
chromosomes); same thing as
three pairs of alleles

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BASIC CONCEPTS OF HEREDITY

GENOTYPE VS PHENOTYPE
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Basic Concepts of Heredity (3)

 Genotype
Inherited alleles
Genetic constitution of an individual, a single gene pair
 Phenotype
Observable functional or physical traits
 Homozygous condition: identical alleles (BB) (bb)
 Heterozygous condition: different alleles (Bb)

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Genotype VS Phenotype

 Seed shape of a pea:

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Genotype and Phenotype

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BASIC CONCEPTS OF HEREDITY

DOMINANT VS RECESSIVE
HOMOZYGOUS VS HETEROZYGOUS
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Basic Concepts of Heredity (2)
 Dominant allele
Dominat allele masks the expression of the other in
influencing some trait.
Effect masks recessive allele paired with it
 Recessive = allele that causes a phenotype that is only seen
in a homozygous genotype
 Genetic representations
Homozygous dominant (AA)
Homozygous recessive (aa)
Heterozygous (Aa)

If two alleles at a locus differ, the dominant allele determines the


organism’s appearance, while the recessive allele, has no noticeable
effect on the organism’sappearance. BIO310 / Genetics / NH
M
BIO310 / Genetics / NHM
Many Genetic Traits Have Dominant and
Recessive Forms

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Dominant VS Recessivegene

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Eyes of brown, blue, hazel, green, gray..
GENETIC Hair of black, brown, blond, red..
Heritable variation.
VARIATION What are the genetic principle that account for the
transmission of such traits from parents to offspring?

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Genetic variations

How Genesfor Different TraitsAre


Sorted intoGametes?

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Sexual sources of geneticvariations

1. Independent assortment of chromosome


Because the alignment of tetrads on the meiosis I metaphase
spindle is largely determined by chance, the maternal and
paternal chromosomes are randomly distributed to daughter
nuclei. One of two possible Other possible
alignments alignment

Initial
chromosome
alignments
(at metaphase I):

This simple event leads to astonish


variation in gametes.
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Independent Assortment:
Chromosomes Moved at Random into Forming Gametes
One of two possible Other possible
alignments alignment

a.Initial chromo-
some alignments
(at metaphase I):

b.The
resulting
alignments at
metaphase II:

c Possible
combinations
of alleles in
gametes:
AB ab Ab aB

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Fig. 19-8, p. 380
Crosses between individuals
heterozygous for two traits

CcDd CcDd
meiosis, meiosis,
gamete formation gamete formation

1/4 1/4 1/4 1/4


CD Cd cD cd
1/4 1/16 1/16 1/16 1/16
CD CCDD CCDd CcDD CcDd

1/4 1/16 1/16 1/16 1/16


Dominant : Chinfissure Cd CCDd CCdd CcDd Ccdd

: Dimples 1/4 1/16 1/16 1/16 1/16


Recessive : Smooth chin cD CcDD CcDd ccDD ccDd

: No dimples 1/4 1/16 1/16 1/16 1/16


cd CcDd Ccdd ccDd ccdd
Crosses betweenindividuals
heterozygous for two traits Adding up the combinations possible:
yields sixteen different 9/16 or 9 chin fissure, dimples
gamete unions 3/16 or 3 chin fissure, no dimples
3/16 or 3 smooth chin, dimples
BIO310 / Genetics / NHM 1/16 or 1 smooth chin, no dimples Fig. 19-9, p. 381
Sexual sources of geneticvariations

2.Crossover of homologues
Gamete variation results from the crossing over
and exchange of chromosomal parts during
meiosis I.
During meiosis, chromosome can break and
precisely exchange gene segments with their
homologous counterparts  recombinant
chromosomes.
When chromatids segregate, each gamete will
receive a unique combination of parental
genes. In general all four of the tetrad may take
part in crossing over.

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Sexual sources of genetic variations

3. Random fertilization of eggs bysperm


Gametes produced with all variations possible and single
human egg will be fertilized with a sperm in a random basis.

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GENETICS TOOLS

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Genetic Tools:TestcrossesandProbability

 When potential parents are concernedabout passinga


harmful trait to a child, genetic counselors must try to
predict the likely outcome of the mating.

TESTCROSS
PUNNETT SQUARE
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A Testcross Also Can Reveal Genotypes

 Testcross
Cross between an organism whose genotype is unknown
with an organism that is homozygous recessive  so the
unknown genotype can be determined from that of the
offspring
Cross organism with homozygous
recessive organism (pp)
 If all offspring are Pp,parent
was probably PP
 If some of the offspring have
the dominant trait and some
have the recessive trait, parent
was Pp
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Probability
 Measure of the chance that some particular
outcome will occur.
 Factor in the inheritance of single-gene traits.
 Cross BB x bb  ?
All of the offspring will be heterozygous, Bb

 Cross Bb x Bb
¼ BB,½ Bb, and ¼ bb

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Use Multiplication to Figure the Probability of the
Inheritance of Alleles

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Fig. 19-7, p. 379
A Punnett Square Can Be Used to Predict the
Result of a GeneticCross

 Punnett square
Grid used to determine possible outcomes of genetic
crosses
Possibility can be expressed mathematically (0%, 100%)
 Mostprobable outcome does not have to occur

 Cross Bbx Bb

Diagrammatic device for predictingallele


composition of offspring from a cross
between individual knowngenotype.
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Making a Punnett Square Is One Way to
Determine Likely Outcome of Genetic Cross

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Fig. 19-5, p. 378
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MENDELIAN
INHERITANCE
Fathers of modern genetics

 Gregor Mendel (1822 – 1884)


 First proposed basic principles of heredity.
 Made revolutionary discoveries about inheritance
patterns in pea plants.

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MENDELIAN INHERITANCE
 Gene transmission = pass traits
from parents to offspring
 Genes are located on chromosomes
(locus/loci) and consist of DNA.
 Passed from parents to their
offspring through reproduction.

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Each Pair of Gene Alleles Is Separated and Two
Alleles End Up in Different Gametes

 We inherit pairs of a genes


(alleles) on pairs of
chromosomes, but a gamete
receives only one gene from
each pair.
 One of these principles isnow
called Mendel's law of
segregation.
 Segregation
Pairs of allelesseparated
during gamete formation
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Mendel's law of segregation
 Mendel worked with pea plants and selected seven traits to
study that each occurred in twodifferent forms.
 One of the traits he studied was podcolor.
Some pea plants have green pods  dominant.
Others have yellow pods  recessive.

Pod

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Seed
Mendel's law of segregation
 Since pea plants are capable of self fertilization, Mendel was
able to produce true-breedingplants.
 A true-breeding yellow-pod plant for example would only
produce yellow-pod offspring.

Recall:
Flower morphology

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Mendel's law of segregation
 Mendel then began to experiment to find out what
would happen if he cross-pollinated a true-breeding
yellow pod plant with a true-breeding green podplant.

 He referred to the two parental plants as theparental


generation (P generation) and the resulting offspring
were called the first filial or F1 generation.
Resulting offspring??
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Mendel's law of segregation

 Cross-pollination between a true-breeding yellow


pod plant and a true-breeding green pod plant,
Mendel noticed all of the resulting offspring, F1
generation, were all green.

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Mendel's law of segregation
 He then allowed all of the green F1 plants to self-
pollinate.
 He referred to these offspring as the F2generation.

 3/4 had green pods


 1/4 had yellow pods.

 Mendel noticed a3:1


ratio in podcolor.

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Why ?

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Mendel's law of segregation

 This law states that allele pairs separate orsegregate


during gamete formation, and randomly unite at
fertilization.
 There are four main concepts involved in this idea.
1. There are alternative forms for genes.
This means that a gene can exist in more than one
form.
For example, the gene that determines pod color can
either be (G) for green pod color or (g) for yellowpod
color.
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Mendel's law of segregation
2. For each characteristic or trait organisms inherit two
alternative forms of that gene, one from each parent. These
alternative forms of a gene are calledalleles.
 The F1 plants in Mendel's experiment each received one
allele from the green pod parent plant and one allele from
the yellow pod parentplant.
 True-breeding = green pod plants (GG) alleles, true-
breeding yellow pod plants = (gg)alleles
 and the resulting F1 plants have (Gg)alleles.

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Mendel's law of segregation
3. When gametes (sex cells) are produced, allele pairs separate
or segregate leaving them with a single allele for each trait.
sex cells contain only half the compliment of genes.
When gametes join during fertilization the resulting
offspring contain two sets of alleles, one allele from each
parent.
For example, the sex cell for the green pod plant had a
single (G) allele and the sex cell for the yellow pod plant
had a single (g)allele.
After fertilization the resulting F1 plants had two alleles
(Gg).
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Mendel's law of segregation
4.When the two alleles of a pair are different, one is dominant
and the other isrecessive.
one trait is expressed or shown, while the other is hidden.
For example, the F1 plants (Gg) were all green because the
allele for green pod color (G) was dominant over the allele
for yellow pod color(g).
When the F1 plants were allowed to self-pollinate, 1/4 of
the F2generation plant pods wereyellow.
This trait had been masked because it is recessive. The
alleles for green pod color are (GG) and (Gg). The alleles
for yellow pod color are(gg).
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Mendel's law of segregation

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Concept check

Dominant :Yellow
Recessive : Green

F1 generation??

F2 generation??

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Law of segregation
Stating that during the production of gametes the two copies
of each hereditary factor segregate so that offspring
acquire one factor from each parent.

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Genotype and Phenotype
 If a pair of alleles for a trait is the same they are called
homozygous.
 If they are differentthey are called heterozygous.
 In the first example
the F1 plants were all heterozygous for the pod color
trait.
Their genetic makeup or genotype was (Gg). Their
phenotype or expressed physical trait was green pod
color.
Genotype = Gg Monohybrid
Phenotype =Green (One trait)
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Mendel's Law of Independent Assortment

 Mendel performed dihybrid crosses (mating of parent


plants that differ in two traits) in plants that were true-
breeding for two traits. (GGYYx ggyy)
 For example, a plant that had- GGYY(green pod color and
yellow seed color) was cross-pollinated with a plant that
had- ggyy (yellow pod color and green seeds).

Dihybrid
GGYY X ggyy (Two traits)
• Pod color
• Seed color

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Mendel's Law of Independent Assortment

 In this cross, the traits for green pod color (GG) and
yellow seed color (YY) are dominant. Yellow pod color
(gg) and green seed color (yy) are recessive.

Dominant : Green pod


: Yellow seed
Recessive : Yellow pod
: Green seed

GGYY X ggyy

 F1 Generation? F1 generation = All green


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Mendel's Law of Independent Assortment

 Mendel then allowed all of the F1 plants to self-


pollinate.
 He referred to these offspring as the F2generation.

F2 generation??
Self pollinate
F1 plant

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Mendel's Law of Independent Assortment

 He noticed:
9 of the F2 plants had
green pods and yellow
seeds,
3 had green pods and
green seeds,
3 had yellow pods and
yellow seedsand
1 had a yellow pod and
green seeds.
9:3:3:1 ratio. BIO310 / Genetics / NHM
Mendel's Law of Independent Assortment

 Mendel performed similar experiments focusing on


several other traits like seed color and seed shape,
pod color and pod shape, and flower position and
stem length.
 Noticed the same ratios in each case.
 Mendel's law of independent assortment.

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Law of independent assortment
states that allele pairs separate independently during
the formation of gametes. Therefore, traits are
transmitted to offspring independently of one another.

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Dominant?
SELF- CHECK
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3:1?

Heterozygous?

10% 30% 50% 70% 80% 90%


TYPE OF
INHERITANCE

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Types of inheritance
 Rules that explain the common patterns with the
inherited characteristic follow as they are passed
through families.
 Why?
 Disorder occurs by inheritance.
 By knowing this, it is possible to calculate the
probability that a particular couple will have a child
who inherits a particular condition.

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Autosomal
 Inheriting a disease, condition, ortrait chromosomes
depends on the type of chromosome
affected
autosomal or sexchromosome.
 It also depends on whether the trait is
dominant or recessive.
 A single, abnormal gene on one of the
first 22 nonsex chromosomes from
either parent can cause an autosomal
disorder.
 Abnormal gene on sexchromosomes
Sex chromosome
can cause sex-linked disorder.
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CHAPTER OVERVIEW

Dominant –recessive Multiple allele


inheritance inheritance
Types of inheritance
Polygene
Incomplete dominance
inheritance

Sex-linked
Codominance
inheritance

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Types of inheritance
1.Dominant – recessive inheritance
Interaction of dominant and
recessive alleles.
Used “Punnet square” to figure
out for a single trait, possible
combination that would result
from the mating ofparents.
Punnet square only predicts the
probability of having certain
percentage of offspring with
particular genotype of
phenotype.
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AUTOSOMAL DOMINANT
 A pattern of inheritance in which an affected individual has
one copy of a mutant gene and one normal gene on a pair of
autosomal chromosomes.
 Dominant inheritance means an abnormal gene from one
parent is capable of causing disease, even though the
matching gene from the other parent is normal.
 Eg: Huntington’s Disease
Degenerative disease of the nervoussystem

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AUTOSOMAL DOMINANT
 The abnormal gene "dominates"the pair of genes.
 If one parent carry dominant gene, what is the chance of
children to inherit the disorder?

 If just one parenthas a


dominant gene defect,
each child has a 50%
chance of inheriting
the disorder.
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Autosomal dominant

A. Here the phenotype for the dominant B. College basketball stars Haris C. These mens have
allele (red) is expressed in thecarriers. Charalambous, who died when his aorta
burst during warmup exercises. He was achondroplasia.
very tall and lanky, with long arms and (autosomal dominant)
legs,traits there associated with Marfan
syndrome. (autosomal dominant)
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AUTOSOMAL RECESSIVE
 An autosomal recessive disorder means two copies of an
abnormal gene must be present in order for the disease or
trait to develop.

CHANCES OF INHERITING ATRAIT:


 If a child are born to parents who both carry an autosomal
recessive change (mutation)
He have a 25% chance of getting the malfunctioninggenes
from bothparents  affected.
He will have a 50% (1 in 2) chance of inheriting one
abnormal gene  carrier
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AUTOSOMAL RECESSIVE
 If four children are born to a couple who both carry the gene
(but do not have signs ofdisease), the statistical expectation is
as follows:
One child is born with two normalgenes (normal).
Two children are born with one normal and one abnormal
gene (carriers, without disease).
One child is born with two abnormal
genes (at risk for the disease).

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AUTOSOMAL RECESSIVE

Example of autosomal recessivediseases:

1.Albinism:
• reduced or lack of pigment that
normally gives color to theskin, hair,
and eyes.
2.Thalassemia:
• forms of inheritedautosomal
recessive blood disorders.
• abnormal formation of haemoglobin,
results in improper oxygen transport
and destruction ofred blood cells
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Autosomal recessive

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Exercise
Mating between carrier
father with non carrier
mother (normal) :
• What is the chances
for the child to
become normal?
• Carrier?

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Mendelian Disorders in human

Autosomal dominant (aa xAa) Autosomal recessive (Aa xAa)


Criteria:
Criteria:
1. Appear in each generation, even in
1. Both parents are heterozygous,
heterozygous.
50% child will be carrier and 25%
2.If one parent heterozygous
will be affected
(affected) and the other is
2. If both parents are homozygous
homozygous (normal)  50% any
recessive, all child will be affected.
child will be affected.

Achondroplasia Cystic fibrosis


Familial hypercholesterolemia Phenylketonuria
Lactose intolerance Tay-Sachs disease
Marfan syndrome Sickle cell disease
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Types of inheritance
2. Incomplete dominance
In complete dominance one allele is expressed, while
the other isn’t.
The heterozygous phenotype is intermediate between
that of either homozygous.

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Types of inheritance
2. Incomplete dominance
Example:
 Red-flowered plant of genotype RR crossed with
white-flowered plant of genotype rr can give rise to
a Rr plant – which has pink flowers.
 This intermediate color presumably due to
intermediate amount of pigment.

RED x WHITE  PINK


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Types of inheritance
2. Incomplete dominance
Example:
Human hair texture is
another example of
incomplete dominance
Genotypes
 S’S’ = Straight
 SS= Curly
 S’S=Wavy

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Types of inheritance
3.Codominance
A condition in which both alleles of a gene
pair in a heterozygote are fullyexpressed,
with neither one being dominant or
recessive to the other.
Human ABO blood group is an excellent
example of codominant alleles.

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Types of inheritance
4. Multiple alleleinheritance
series of three or more allelic forms of a gene
Example: Inheritance of human ABO blood group;
 ABO blood group are controlled by threealleles:

IA, IB, IO
 The alleles determine the type of polysaccharide on the
cell surface membrane of erythrocytes that functions as
antigens.

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Phenotypes
Genotypes
Antigen on surface ABO blood type
IA IA A
Type A
IA i A
IB IB B
Type B
IB i B
IA IB AB Type AB
ii None Type O
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 Could a man with blood type AB be a father of a
child with blood type O?
 Could a woman with blood type O be a mother of
a child with blood type AB?
 Could a type Bchild with a type A mother have a
type A father or type O father?

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Types of inheritance
5. Polygene inheritance
Occurs when one characteristic is controlled by two or more than two genes
(usually by many different genes) at different loci on different chromosomes.
Each dominant allele has a small quantitative effect individually on the
phenotype.
Eg: based on the assumption that skin color is controlled by two pairs of alleles:
 A, Bare dominant allele – darker skin tone
 a, b are recessive allele – paler skin tone
 AABB (very dark skin) X aabb (very fair skin) = producing AB and ab
gametes. As a result all of their offspring will be AaBb (medium brown skin).

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SEX-LINKED INHERITANCE
6. Sex-linked inheritance
Sex-linked genes located on the sex chromosome but are not
involved in the determination of sex.
In human, most of the sex-linked genes are carried on the X
chromosome.
Most X-linked traits arerecessive.
Therefore, male only requires one allele to be affected, while
female require two alleles.
X-linked trait passes from MOTHER  SON, but never from
the father.
Eg: Hemophilia, color blindness
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SEX-LINKED INHERITANCE
Hemophilia
 X-linked recessive disorder
 Recessive trait, found on theXchromosome
 Individual have the inability to produce a proteinneeded for
blood clotting.
 Caused by a mutated recessive gene found on the X-
chromosome.
 It is characterized by reduced ability of the blood toclot
due to lack of clotting factors.

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EXERCISE:

A man with hemophilia married a


normal noncarrier woman.

• What is the probability thatthe


couple will have carrier child?

• What is the probability that the


couple will have normal child?

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Hemophilia
 When the mother
carries the hemophilia
gene and the father is
unaffected, calculate
the possibility for the
gene to be
transmitted to the
children.

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SEX-LINKED INHERITANCE
Red-green Color blindness
 Individual have difficult time distinguishing between shades of
red and green.
 May caused by an abnormality in any of light receptor (cone).
 X-linked recessive disorder.

 Cause: fault in the


development of one or
more sets of retinalcones
that perceive color inlight

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SEX-LINKED INHERITANCE
Red-green Color blindness
 Colorblindness is a recessive trait found on the
X chromosome.
 Female, normal vision: XBXB
 Female, carrier: XBXb
 Female, color blind: XbXb
 Male, normal vision: XBY
 Male, color blind: XbY

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PEDIGREE ANALYSIS
Pedigree analysis
 Use chart called pedigree to display family relationships
and to depict which relatives have specific phenotypes and
sometimes genotypes.
 Pedigrees are important both for helping families identify the
risk of transmitting an inherited illness.

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Pedigree analysis
 Usually represent males as squares and females ascircle.
 Ahorizontal line connecting a circle and square representsa
mating.
 The generations in a pedigree are usually denoted byRoman
numerals.

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Example Pedigree chart

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CHANGESIN
CHROMOSOME
STRUCTURE&NUMBER
• Duplication
• Inversion
• Translocation
• Deletion
• Nondisjunction
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Changes in chromosome structure

 Physical and chemical disturbances as well as error


during meiosis can damage chromosomestructure.
 Also called “genemutation”.
Duplication
Inversion
Translocation
Deletion

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Changes in chromosome structure

1) Duplication
 When normal chromosomes have gene sequences that

are repeated several times to many hundreds of


thousands of times.
 No genetic disorder yet been linked with duplication

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Changes in chromosome structure

2) Inversion
 a linear stretch of DNA within a chromosome

becomes oriented in reverse direction with no


molecular loss.

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Changes in chromosome structure

3) Translocation
 involves the re-attachment of brokenchromosomes

to non-homologous chromosomes.
 Normally, most translocations are reciprocal. (both

chromosomes exchange broken parts)

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Changes in chromosome structure

4) Deletion
 caused by viral attacks, irradiation, chemical assaults

and other environmental agents.


 Some fragments of a chromosome are loss.

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Changes in chromosome structure

4) Deletion
 Disorder: Cri du chat syndrome orcat cry syndrome
 Deletion ofDNA on small arm of chromosome 5.
 Symptoms: high-pitched cat-like cry, mentalretardation,
delayed development, etc.

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Changes in chromosome number

Non-disjunction
 Occasional mishaps, called non-disjunction occur in which the members
of a pair of homologous chromosomes do not move apart properly
during meiosis I or II.
 One gamete receives 2 of their same type chromosome, another
receives no copy.

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Changes in chromosome number

Non-disjunction

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Changes in chromosome number

 Trisomy 21 - Down syndrome


 Trisomy = [ n + 1 ] + [ n ] = 2n + 1
Result of an extra chromosome
(chromosome 21) = total of 47
Often called trisomy 21 – cells
are troisomic for chromosome
21

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A person with down syndrome is usually short and has
straight, sparse hair and protruding tongue.
The likelihood of giving birth to a child with Down
syndrome increase dramatically with the age of the
mother.

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Changes in chromosome number

Non-disjunction
 Nondisjunction of sex chromosomes produces a variety of aneuploid
conditions.

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Non-disjunction Also Can Change the
Number of SexChromosomes

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Changes in chromosome number

 Monosomy  [ n – 1 ] + [ n ] = 2n – 1
 Turner syndrome (45, XO)
Single Xchromosome
Phenotypically female
Physically short, sterile, had folds of
skin, had malformed elbows,
sexually underdeveloped.
99% of affected fetuses are not
born.

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Changes in chromosome number

 Trisomy [ n + 1 ] + [ n ] = 2n + 1
 Klinefelter syndrome (47, XXY)
More than one Xchromosome.
Male genitalia
Male phenotype but small testes, small penis,breast
enlargement, absence of sperm in ejaculation,sterile.
Low testosterone, high estradiol

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 Triple X syndrome (XXX)
47, XXX
Female phenotype, healthy
Have diminished fertility

 Supermale (XYY)
47, XYY
Do not exhibit well-defined syndrome
Normal male, increase height
Reduce sperm production

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Dominant?
SELF- CHECK
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3:1?

Heterozygous?

10% 30% 50% 70% 80% 90%


THAT’S ALL

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