Biology Genes

Inheritance
Chapter-16
Prepared by…
Md. Rezaul Karim.
Essential Question: The inheritance of genes
follows patterns.
Understandings
Statement
Mendel discovered the principles of inheritance with experiments in which large
1
numbers of pea plants were crossed.
2 Gametes are haploid so contain only one allele of each gene.
The two alleles of each gene separate into different haploid daughter nuclei during
3
meiosis.
Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the
4
same allele or different alleles.
Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint
5
effects.
Many genetic diseases in humans are due to recessive alleles of autosomal genes,
6
although some genetic diseases are due to dominant or co-dominant alleles.
Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-
7 linked genes due to their location on sex chromosomes. [Alleles carried on X
chromosomes should be shown as superscript letters on an upper case X, such as Xh.]
8 Many genetic diseases have been identified in humans but most are very rare.
Radiation and mutagenic chemicals increase the mutation rate and can cause genetic
9
diseases and cancer.
1. Inheritance is the way in which parents pass on their characteristics to their
off springs.
2. Genetics is a branch of biology that deals with the heredity of an organism. So

it is a science, which surrounds us and determines our everyday lives. Just look at
the person next to you (everyone is unique and different because of their genes)
3. Haploid : when a cell nucleus contains single number of chromosome is called

haploid chromosome. So haploid nuclei have one copy of each chromosome or
one full set of the chromosomes in that particular species EX. Human has 23
pairs of chromosomes, 22 pairs are autosomes and one pair sex chromosomes. In
haploid chromosome it have 23 chromosomes.
• These are called gametes, which are sperm and egg
• Human sperm and eggs each contain 23 chromosomes.
4. Diploid: When cells or organisms containing two sets of genes or

chromosomes is called diploid chromosome. ex. Body cells
5. Gene: A length of DNA which determines a character in the
organisms.
6. Allele: Alternating forms of genes coding for the same trait
is called allele each other. They are situated on the same locus
of a chromosome.
Key Terminology
Key terminology
Gametes are haploid so contain one allele of each gene. Fusion of gametes results
in diploid zygotes with two alleles of each gene that may be the same allele or
different alleles
Gametes are haploid and contain one copy of each chromosome – and therefore
one allele of each gene: haploid so contain one allele of each gene
When the male and female gametes fuse in fertilization, the resultant diploid cell
– called the Zygote – will have two alleles of each gene, one from each parent
Many genes have two alleles, as Mendel observed – often one is dominant, one
recessive, producing three possible genotypes:
• AA = Homozygous Dominant (dominant phenotype)

• Aa = Heterozygous (dominant phenotype)
• aa = Homozygous Recessive (recessive phenotype)
Key terminology
1. Gametes: are haploid and contain one copy of each chromosome and
therefore one allele of each gene.
2. When the male and female gametes fuse in fertilization, the

resultant diploid cell called the Zygote –will have two alleles of
each gene, one from each parent.
3. When two genes are located in a specific location of a

chromosome and responsible to a particular characteristic of an
organism. These pairs of genes is called allele each others. Ex: Bb
4. Genotype – symbolic representation of pair of alleles or
genes possessed by an organism, typically represented by two
letter. Ex: Bb, GG, tt , tT, TT
5. Phenotype – The visible or expressed characteristics of an

organisms, controlled by the genotype. Though phenotype is the
result of the genotype, certain genes don’t express for number of
reasons and so the genotypes and phenotypes of an organism may
not be the same. Genotypes for height of the pea plants are TT
and Tt but phenotype is tall.
6. Dominant allele – an allele that has the same effect on the

phenotype whether it is paired with the same allele or a
different one; always expressed in phenotype
Ex: Aa give dominant trait A because the a allele is masked; the a
allele is not transcribed and translated during protein synthesis
7. Recessive allele – an allele that has an effect on the phenotype only
when present in the homozygous state aa, Aa, AA
• Ex: aa gives rise to the recessive trait because no dominant
allele is there to mask it
8. Codominant allele – pairs of alleles that both affect the phenotype
when present in a heterozygote
• Ex: parent with curly hair and parent with straight hair can have
children with different degrees of curliness as both alleles
influence hair condition when both are present in the genotype
9. Locus – particular position on homologous chromosomes of a gene
7. Homozygous – having two identical alleles of a gene
Ex: AA is a genotype which is homozygous dominant
whereas aa is the genotype which is homozygous
recessive.
8. Heterozygous – having two different alleles of a gene
Ex: Aa is a heterozygous genotype
9. Carrier – an individual who has a recessive allele of a
gene that does not have an effect on their
phenotype.
10. Test cross – If the cross is made between an organism of first
filial generation and the recessive parents is called a test cross.
testing a suspected heterozygote plant or animal by crossing it
with a known homozygous recessive (aa). Since a recessive allele
can be masked, it is often impossible to tell if an organism is AA
or Aa until they produce offspring which have the recessive trait.
11. Back cross: When an organism of first filial generation is cross

with any one of its parents, either recessive or dominant is called
a back cross.
DNA Structure and making new DNA
• Each chromosome made of thousands of genes.
• Genes carry the genetic information that affects the

internal and external characteristics of an organism.
Ex. Body colour, height etc.
• The chromosome is a thread like structure which is

made up of a chemical called DNA.
• A DNA molecule is made up of thousands of units

each called a nucleotide.
When DNA nitrogen bases attach with the ribose-sugar, that
combination is called nucleoside and nucleoside again
joined with the inorganic phosphate is called nucleotide.
So, a single nucleotide made up of three molecules---

I. a phosphate
II. a deoxyribose sugar
III. a nitrogen base.
 There are four nitrogen bases in DNA

a. adenine
b. guanine
c. cytosine
d. Thymine
• These four nitrogen bases joinning up two DNA strands.

Nucleic acids are very large molecules that are constructed by linking together nucleotides to
form a polymer.
There are four nitrogen bases in DNA:
• Adenine & Guanine are two-ringed bases called Purines

• Thymine & Cytosine are one-ringed based called Pyrimidines
RNA shares the same bases except that Uracil (U) replaces Thymine
NOTE: When talking about bases always use

the full name on the first instance
• Nucleotides a linked into a single
strand via a condensation reaction
• Bonds are formed between the
phosphate of one nucleotide and the
pentose sugar of the next
• The phosphate group (attached to the
5'-C of the sugar) joins with the
hydroxyl (OH) group attached to the 3'-
C of the sugar
• This results in a Phosphodiester bond
between the two nucleotides and the
formation of a water molecule
• Successive condensation reactions
between nucleotides results in the
formation of a long single strand
Mendel’s Law of Segregation
Four parts
• Alternative versions of genes account for variations in inherited
characteristics.
• For each characteristic, an organism inherits two alleles, one from
each parent.
• If the two alleles differ, then one, the allele that encodes the
dominant trait, is fully expressed in the organism's appearance; the
other, the allele encoding the recessive trait, has no noticeable effect
on the organism's appearance.
• The two alleles for each characteristic segregate during gamete
production
Construction of Punnett grids for predicting the outcomes of
monohybrid genetic crosses.
Principle of Segregation: Each Parent or Gamete

Contributes One Allele to Offspring
Construction of Punnett grids for predicting the outcomes of
monohybrid genetic crosses.
Punnet Square:
Used to determine the outcome of a cross between two individuals.
In the example we have two parents that are heterozygous
dominant for a trait
Offspring:
Genotype: 1/4 PP, 1/2 Pp, and 1/4 pp
Phenotype: 3/4 Purple and 1/4 white
Gametes are haploid so contain only one allele of each
gene.
• Gametes are sex cell.

• Sex cells contain one chromosome
of each type, as an example Humans
have 23 types.
• Parents pass information in
the form of genes in gametes (sex cell)
• These cell will fuse together with the
cell of the opposite sex to create a
zygote.
The two alleles of each gene separate into different haploid
daughter nuclei during meiosis.
Meiosis = reduction
division
• Cells divide twice

• Result: 4 daughter
cells, each with half
as many
chromosomes as
parent cell
Fusion of gametes results in diploid zygotes with two alleles of each
gene that may be the same allele or different alleles.
.
Life cycle: reproductive history of organism, from

conception  production of own offspring
• Fertilization and meiosis alternate in sexual life cycles
• Meiosis: cell division that reduces # of chromosomes (2n 
n), creates gametes
• Fertilization: combine gametes (sperm + egg)
– Fertilized egg = zygote (2n)
• Zygote divides by mitosis to make multicellular diploid
organism
.
Human Life Cycle

.
Dominant alleles mask the effects of recessive alleles but co-dominant
alleles have joint effects.
.
http://gestblog.scientopia.org/wp-content/uploads/sites/35/2012/07/10-04.gif
Problems with predictions
I. Codominance
II. Multiple alleles
III. Sex linked genes
Many genetic diseases in humans are due to recessive alleles of
autosomal genes, although some genetic diseases are due to dominant
or co-dominant alleles
Inheritance characterized by full expression of both alleles in
the heterozygote.
Seen in:
• Roan Cattle
• Tay Sacs disease
• Blood Types
You have a brown Bull and a

white Cow. You cross them and
get a mix of the two colors.
BB = Brown Bull/Cow
WW = white Bull/Cow
BW = Mixture of the two colors
Sickle Cell Anemia: (example of a codomainant gene
mutation and its consequences through protein synthesis)
The Genetics of Sickle Cell Anemia

•HBA HBA Suceptible to malaria with anemia
• HBA HBs Increase resistance to malaria with mild anemia
• HBs HBs Sickle cell shaped cell Suceptible to malaria with
severe anemia
Inheritance of ABO blood groups. [The expected notation for ABO blood
group alleles: O = i, A=IA, B = IB.]
There are 4: A, B, AB and O

A & B refer to 2 genetically
inherited A and B antigens on
the surface of red blood cells.
IA – codes for A
IB – codes for B
i - codes for no antigen = type
O blood
Multiple Alleles: ABO Blood Groups
Blood type O: Universal donor. Blood type AB: Universal acceptor

Some genetic diseases are sex-linked. The pattern of inheritance is
different with sex-linked genes due to their location on sex
chromosomes. [Alleles carried on X chromosomes should be shown as
superscript letters on an upper case X, such as Xh.]
Sex Chromosomes
• The X chromosome in humans
spans more than 153 million base
pairs (the building material
of DNA). It represents about 2000
out of 20,000 - 25,000 genes.
• The Y chromosome containing
78 genes, out of the estimated
20,000 to 25,000 total genes in the
human genome. Genetic disorders
that are due to mutations in genes
on the X chromosome are
described as X linked.
Male sex chromosomes
• There are non-homologous

region males in which there
is only one allele per gene
and that is inherited from
the female on the X-
chromosome
• In the homologous region
the male inherited two
copies of an allele per gene.
Female sex chromosomes
• All regions of the X

chromosome are
homologous.
• There are two alleles per
gene as with all other genes
on all other chromosomes
This difference in x and y chromosomes plays a large role in

determining rates of genetic inherited defects
Sex Linkage Alleles on the non-homologous region of the

X chromosome are more common in females than in
males
• A gene with two alleles where one is dominant and one is recessive.
• Female has three possible genotypes and one is the homozygous
recessive.
• In a population the chance of being homozygous recessive is 33.3 %.
• Males have two possible genotypes.
• There is a 50% chance of the homozygous recessive condition in the
population.
• In sex linked conditions the recessive condition is more common in
males than females.
Red-green color blindness and hemophilia as
examples of sex-linked inheritance.
Female carriers of sex linked alleles
• Female heterozygote's for sex linked alleles e.g. Hemophilia
XHXh or Color Blindness XBXb are carriers of the allele.
• They are unaffected by the condition.
• They do pass on the allele which may result in a
homozygous female or a male with the sex linked recessive
allele.
Sex Linkage Examples:
Hemophilia
• Hemophilia is an example of a
sex linkage condition.
• The hemophilia allele is
recessive to the normal allele.
• The gene is located on the non-
homologous region of the X
chromosome.
• The disease is associated with
an inability to produce a clotting
factor in blood.
• Internal bleeding takes longer to
stop.
http://blog.nz-online.de/lieb/wp-content/uploads/sites/8/2010/07/blut.jpg
• The Hemophilia
homozygous
genotype(*) in
females has a Hemophilia
high mortality.
• The genotype
XnY in males
has a high
mortality.
• Red Green Color Blindness is an

example of a sex linked
condition.
• Red Green Color blindness is a
recessive condition.
• The color blind allele is recessive
to the normal allele.
• Female homozygous recessives
XbXb are color blind.
• Males with the genotype XbY are
color blind. Above is a color test
plate.[The numeral "74"
• Notice that in a population the
probability of having a Red Green should be clearly visible to
color blind genotype in males is viewers with normal color
higher. vision.
Normal color vision
Red/green color blindness
Analysis of pedigree charts to deduce the pattern of inheritance of
genetic diseases.
• Another way to visualize a

Pedigree Chart monohybrid crosses or
determining a genotype is by
using a pedigree chart
• Knowing the phenotype of
individuals in a family will
sometimes allow genotypes to
be determined.
• In genetic counseling this
enables probabilities to be
determined for the inheritance
of characteristics in children.
genetic diseases.
Pedigree Chart
• White circle : Normal
female
• White Square: Normal
male
• Black Circle: affected
female
• Black square: affected male
• (1) and (2)..Normal Parents
• (3) affected female
• (4),(5) and (6) normal
genetic diseases.
genetic diseases.
genetic diseases.
1. Phenylketonuria (Pku)
• Using the allele key provided

state the genotype of parents
1 and 2?
• Give the genotype and
phenotype of individual 5 ?
• Is it possible that the
condition is sex linked ?
• What is the genotype and
phenotype of individuals 7
and 8?
• Which two individuals have
the incorrect pedigree
genetic diseases.
2. Muscular Dystrophy
• What type of genetic disease
is muscular dystrophy?
phenotype of 1?
phenotype of 2?
phenotype of 8 ?
phenotype of 5 and 6 ?
Inheritance of cystic fibrosis and Huntington’s disease.
Cystic fibrosis (CF) Non Sex link recessive genetic trait found
on Chromosome 7
Example: Cross
The couple below are heterozygous for CF
http://www.bbc.co.uk/staticarchive/088e5fc50b3c51cfb49ebc4b6eaf203b18b93bbc.gif
Inheritance of cystic fibrosis and Huntington’s disease.
Huntington’s Disease Non Sex link dominant genetic trait
The couple two couples below are examples
• Couple 1: 1 heterozygous (has trait) with 1 homozygous (without the
trait)
• Couple 2: Both parents are heterozygous with Huntington's
Couple 1 Couple 2
http://vanhornhuntingtonsdisease.weebly.com/uploads/1/3/7/4/13740905/4993818.jpg?1347964948
Many genetic diseases have been identified in humans but most are
very rare.
• Medical research has identified

over 4,000 genetic diseases,
however many individuals do
not suffer from one.
• Most genetic diseases are
caused by rare recessive
alleles. Making the chance of
inheritance very small.
• Genetic sequencing of the
human genome current
estimates are that there
maybe as little as 75-200
genes out of over 20,000
genes in the genome that
contain these traits.
Radiation and mutagenic chemicals increase the
mutation rate and can cause genetic diseases and
cancer.
A mutagen is a physical
(radiation) or chemical
agent like Nitrosamines,
found in tobacco. These
mutagens change the genetic
material, usually DNA, of
an organism and increases
the frequency
of mutations above the
natural background level.
Many mutations
cause cancer, mutagens are
therefore also likely to
be carcinogens.
Radiation and mutagenic chemicals increase the mutation rate and
can cause genetic diseases and cancer.
• Radiation-induced cancers do not appear until at least 10 years after exposure (for
tumors) or 2 years after exposure (for leukemia).
• The risk of cancer after exposure can extend beyond this latent period for the rest
of a person’s life for tumors or about 30 years for leukemia.
• Risk is calculations are based on:

– The type of radiation.
• Each type of radiation is different and affects tissues differently.
– The energy that it leaves in the body.
• More energy means a higher probability of an effect.
– Where in the body the energy remains.
• Radiation exposure to a non-sensitive area of the body (i.e., wrist) really
has no actual effect. Radiation exposure to a sensitive area of the body (i.e.,
blood-forming organs) can have an effect if the amount of energy left is
high enough.
• Indirect damage
– Water molecule is ionized, breaks apart,
and forms OH free radical.
– OH free radical contains an unpaired
electron in the outer shell and is highly
reactive: Reacts with DNA.
– 75 percent of radiation-caused DNA
damage is due to OH free radical.
• Direct damage
– DNA molecule is struck by radiation,
ionized, resulting in damage.
Chromosome Damage
Formation of a ring and fragments followed
by replication of chromosomes.
Radiation and mutagenic chemicals increase the
mutation rate and can cause genetic diseases and
cancer.
Chromosome Damage
Interchange between two chromosomes
forms a chromosome with two centromeres
and fragment, followed by replication.
Consequences of radiation after nuclear bombing of Hiroshima and
accident at Chernobyl.
Commonly Encountered Radiation Doses

Effective Dose Radiation Source
<= 0.01 rem annual dose living at nuclear power plant panoramic, or full-mouth dental
x rays; skull or chest x ray
<=0.1 rem single spine x ray; abdominal or pelvic x ray; hip x ray; mammogram
<=0.5 rem kidney series of x rays; most barium-related x rays; head CT; any spine x-ray
series; annual natural background radiation dose; most nuclear
medicine brain, liver, kidney, bone, or lung scans
<=1.0 rem barium enema (x rays of the large intestine); chest, abdomen, or pelvic CT
<=5.0 rem cardiac catheterization (heart x rays); coronary angiogram (heart x rays);
other heart x-ray studies; most nuclear medicine heart scans
CT = computerized tomography; a specialized x-ray exam.

Radiation Doses and Expected Effects (cont.)

General radiation doses to the entire body and expected effects:
• 100-200 rem received in a short time will cause nausea and fatigue.
• 100-200 rem received over a long period will increase a person’s chances of getting cancer.
• 200-300 rem received in a short time will cause nausea and vomiting within 24-48 hours.
Medical attention should be sought.
• 300-500 rem received in a short time will cause nausea, vomiting, and diarrhea within hours.
Loss of hair and appetite occurs within a week. Medical attention must be sought for
survival; half of the people exposed to radiation at this high level will die if they receive no
medical attention.
• 500-1,200 rem in a short time will likely lead to death within a few days.
• Greater than 10,000 rem in a short time will lead to death within a few hours.
http://inapcache.boston.com/universal/site_graphics/blogs/bigpicture/hiroshima_08_05/h17_04.jpg
http://www.nucleardarkness.org/include/nucleardarkness/images/cityonfire/hiroshima_after_02_full.jpg

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Inheritance

2. Genetics is a branch of biology that deals with the heredity of an organism. So

3. Haploid : when a cell nucleus contains single number of chromosome is called

4. Diploid: When cells or organisms containing two sets of genes or

• AA = Homozygous Dominant (dominant phenotype)

2. When the male and female gametes fuse in fertilization, the

3. When two genes are located in a specific location of a

5. Phenotype – The visible or expressed characteristics of an

6. Dominant allele – an allele that has the same effect on the

11. Back cross: When an organism of first filial generation is cross

• Genes carry the genetic information that affects the

• The chromosome is a thread like structure which is

• A DNA molecule is made up of thousands of units

So, a single nucleotide made up of three molecules---

 There are four nitrogen bases in DNA

• These four nitrogen bases joinning up two DNA strands.

• Adenine & Guanine are two-ringed bases called Purines

NOTE: When talking about bases always use

Principle of Segregation: Each Parent or Gamete

• Gametes are sex cell.

• Cells divide twice

Life cycle: reproductive history of organism, from

Human Life Cycle

You have a brown Bull and a

The Genetics of Sickle Cell Anemia

There are 4: A, B, AB and O

Multiple Alleles: ABO Blood Groups

Blood type O: Universal donor. Blood type AB: Universal acceptor

Male sex chromosomes

• There are non-homologous

• All regions of the X

This difference in x and y chromosomes plays a large role in

Sex Linkage Alleles on the non-homologous region of the

• Red Green Color Blindness is an

• Another way to visualize a

• Using the allele key provided

• Medical research has identified

• Risk is calculations are based on:

Commonly Encountered Radiation Doses

CT = computerized tomography; a specialized x-ray exam.

Radiation Doses and Expected Effects (cont.)

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