CHAPTER 5 & 6

SPM 2015

AINA MARDHIA KHALID

5:1 Concept of inheritance nased on Mendels Experiment

1. The seven garden pea characteristics studied by Gregor Mendel:

2. Meaning of inheritance, characteristic and trait :

a) Inheritance :
I.
Is the transmission of particular characteristics from
generation to generation by means of genetic code on the
DNA of a chromosome
II.
These characteristic are transferred to the offspring in the
gametes
b) Characteristics :
I.
Distinctive inherited feature of an organism,
II.
Example height and color
c) Trait :
I.
Each variant for a specific characteristic
II.
Example Curly hair,straight hair
CHARACTERISTIC
TRAIT

3. Monohybridd inheritance :

HEIGHT OF A PEA PLANT

a) Inheritance involved a genetic cross between two parents that

differed in only one characteristic

b) Mendel used pure breeds of tall and short plants as the parents (P)
and artificially cross-pollinated them
I. The trait that showed up in the first filial generation
( F1)nis generation DOMINANT and the trait which did
not Show up is RECESSIVE
II. F1 to self pollinate
1) Produced the second filial generation (F2)
2) From the 1064 plants,787 were tall and 277 were
short,giving an approximate ratio of 3 : 1

Figure 5.4 Monohybrid cross

C) Deductions made :
I. Within each organism are hereditary factors
II. Each echaracteristics is detemined by 2 hereditary factors
III. During the formation of gametes,the 2 factors are separated and
each gamete contains only one factor
IV. Fertilization of gametes is at random ; the zygote contain 2
factors for a particular characteristic
V. If the 2 factors differ, the factor that shows up its effect is
dominant while the other is recessive
d) Mendels First Law / Law of segregation :

States that each individual characteristics of an

organism is determined by a pair of alleles. The
pairs of alleles segregate during meiosis and
only one of each pair of alleles can be present in
a single gamete

4. Terms used in genetics

Term
Gene
Allele
Dominant allele

Recessive allele
Genotype
Phenotype
Homozygous
Heterozygous
Pure line/ pure breed

5. Structure of a pair of homologous chromosomes:

Meaning

6. Dihybrid inheritance
a. The inheritance involving a cross between two parents that differ in
Two characteristics
b. Mendel crossed pure breed of tall pea plants which produced round
seeds with short pea plants which produced wrinkled seeds
c. All the F1 generation offsprings were tall plants with round seeds
d. The F1 hybrid self-pollinate and self-fertilized
e. The F2 plants produced a phenotypic relationship of approximately
9:3:3:1
Known as dihybrid

f.

Mendels Second Law /Law of Independent Assortment:

States that during gamete formation,each

member of a pair of alleles may combine
randomly with either member or another pair of
alleles

V.2
Inheritance
1. ABO BLOOD GROUP SYSTEM
a. Example of multiple alleles
i.
3 alleles involved
b. The alleles determine the type of antigens found on the membrane
of RBCs
c. Alleles IA and IB are dominant
i.
Are codominant
ii.
Expressed equally in the phenotype of the heterozygous
offspring
d. Allele IO is recessive

e. Example :

2. Rhesus factor in humans

a. Refer to the antigen found on the surface membrane of some RBCs
b. People who have Rhesus factor Rhesus positive (Rh+)--DOMINANT
c. People who do not have Rhesus factorRhesus negative (Rh-)--RECESSIVE

d. Problems will arise during pregnancy if mother is RH- and the child
is RH+
I.
During late pregnance or during birth,some of the foetal
blood cells may enter the mothers blood
II.
This triggers the mothers blood to produce anti-Rhesus
antibodies

III.
IV.
V.

VI.
VII.
VIII.

The harmful effecrs do not show during the first pregnancy

With successive pregnancies,the antibody level builds up in
the maternal bloodstream
Her anti-Rhesus antibodies may cross the placenta and cause
agglutination and haemolysis of the foetal RBC
Erythroblastosis fetalis (RBC PECAH)
The foetus suffers from jaundice,severe anemia and damage
to heart,liver and brain
In severe cases the baby may stillborn or die in first few days
How to overcome??
1. The blood of the infant has to be changed from Rhblood,a badly affected foetus may be treated in worb
2. Giving the monther anti-Rh globulin just after first
pregnancy,preventing the formation of antibodies
3. The Rh-mother should seek medical advice to prevent
Erythroblastosis fetalis in subsequent pregnancies

3. Human autosomes and sex chromosomes

a.

Each human somatic cells contain 46 chromosomes

b.
chromosomes
c.

22 homologoues pairs of autosomes and one pair of sex

Autosomes;
a. Chromosomes that occur in homologous pairs in both males
and females
b. Do not contain genes that control sex determination
c. Have identical appearances in both males and females
Sex chromosome;
a. Chromosome containing genes that determine the sex
b. Human females-1 X chromosome and 1 smaller Y
chromosome
c. Y chromosome carry fewer genes

4. Human autosomes and sex chromosomes

a. Each human somatic cell contain 46 chromosomes
b. 22 homologous pairs of autosomes and one pair of sex
chromosomes
c. Autosomes:
i.
Chromosomes that occur in homologous pairs in both males
and females
ii.
Do not contain genes that control sex determination
iii.
Have identical appearances in both males and females
iv.
Sex chromosomes:
- Chromosomes containing genes that determine the
sex
- Human females 2 identical X chromosome
- Human males 1 X chromosome and 1 smaller Y
chromosome
- Y chromosome carry fewer genes
v.
Human karyotype :
vi.
Karyotype of a person with Downs syndrome:
vii.
Downs syndrome :
- Abnormal number of autosomes
- 3 chromosomes 21
- Trisomy 21
- Results of non-disjunction during meiosis where 2
Homologous chromosomes 21 fail to separate
normally during anaphase I / anaphase II of meiosis
- Have flat,broad faces,slanted eyes,a protruding
tongue,short palms and tend to be mentally retarded.
- The risk of having a downs syndrome child
increases with maternal age.
5. Sex determination in humans

a. All the female eggs produced contain 22 autosomes and one X

chromosome
b. Sperms 2 types
i.
22 autosomes + 1X
ii.
22 autosomes + 1Y
c. Therefore, the fathers sperm that determine the sex of the child

6. Sex linked inheritance in humans

a. Genes on the sex chromosomes which are not involved in sex
determinantion are called sex-linked genes
b. Most sex-linked genes are carried by the X chromosome
i.
Larger and can carry more genes
C. Haemophilia
i.
Hereditary sex-linked disease
ii.
Caused by a recessive allele found on the X chromosome
iii.
Lack of blood clotting factors
-the blood clots very slowly
-excessive loss of blood
iv.
The X-linked trait affects male > females
v.
In female :
1. If only one X chromosome carries the recessive allele,its effects
will be masked by the normal dominant allele on the other X
chromosome
2. These heterozygous females female (XH Xh) are carries
i. DO NOT suffer from the disease but may pass the
recessive allele on their offspring
3. Only inherits the disease if she inherits bothe the recessive
alleles (XhXh) from her parents
vi.
In males :
1. Need to have only one recessive allele (Xh Y) to inherit
haemophilia

d. Color blindness
I.
Unable to see the difference between all or some colours
II.
Most common red-green colour blindness
- Inability to ddistinguish between red and green
colors
III.
Caused by a recessive allele located on the X chromosome
IV.
Most common in MALE then females

7. Hereditary diseases
a. Are disorders that can be inherited
b. Some are caused by defective genes found on the autosomes
c. Examples :
-cystic fibrosis,albinism,sickle cell anemia,thalassaemia
d. others hereditary sex linked diseases
- Red-green color blind,haemophilia,muscular dystrophy
V.3
: Understanding Genes and Chromosomes
1. Gene :
a. Basic unit of inheritance
b. Controls the trait
c. Found on the chromosome in the nucleus
2. Human somatic cell:
a. 23 pairs of chromosomes

b. Each chromosome is made up of a long DNA (deoxyribonucleic acid)

molecule coiled around protein molecule called HISTONE

3. DNA molecules :
a. Contain thousands of genes which code for the synthesis of specific
proteins
b. Made up of basic units called nucleotides
I.
Made up of a deoxyribose sugar,a nitrogenous base and a
phosphate group.
II.
There are 4 different bases
- Adenine (A)
- Thymine (T)
- Cytosine (C)
- Guanine (G)
III.
There are 4 different nucleotides each containing one of the
four nitrogenous bases
IV.
A phosphate group of one nucleotide is linked to the
deoxyribose sugar on the next nucleotide
- The nucleotides are joined together to form a long
polynuceotide strand

c. Consists of 2 polynucleotide strands coiled together to form double

helix
- The 2 strands are antiparallel ; facing opposite
directions
d. Adenine is linked to thymine and cytosine is linked to guanine
- By hydrogen bonds
e. The sequence of nitrogenous bases forms the genetic codes that
determine the characteristics of organisms

4. Each gene :
- Occupies a specific position caled a gene locus on a chromosome
- gene :
-Is a DNA segment containing a particular sequence of nucleotides that
code for the synthesis of a specific polypeptide chain or protein in an
organism
1. Proteins are needed to form enzymes and other
important components in the cells.They determine the
characteristics of organisms
5.

How a trait is manifested from the basic unit of inheritance:

chromosomes
nucleus
chromosomes in
in nucleus
contain DNA
DNA
contain

DNA

contain

nucleotides

A
A

DNA segment
segment contains
contains
DNA
specific sequence of
nitrogenous
bases which
which
nitrogenous bases
acts as a gene
The

genes codes for a

specific
specific
polypeptide,protein or
enzyme
enzyme

produces the trait

organism
organism

of

an

7. Application of knowledge in genetics to mankind :

a. Selective breeding
I.
Both animals and plants
II.
To produce off speing that poses desirable characteristics of
both parents
III.
Example :

b. Genetic engineering
I.
Recombinant DNA technology
II.
Alter characteristics of an organism by introducing target genes
from another organism to its DNA
III.
The modified DNA recombinant DNA
IV.
The organism with the recombinant DNA- genetically modified
organism (GMO)
V.
Food derived from these organism- genetically modified
organusm)
VI.
Application :
- Gene therapy

Production of drugs
*insulin
*vaccines for hepatitis B

c. DNA fingerprinting ( DNA profiling)

I.

There are certain nucleotide segments in the DNA that do not code
for proteins
II.
These segments are the characteristics for each individual
III.
The probability of 2 individuals having the same banding pattern is
very small except for identical twins
IV.
The DNA of an individual can be obtained from samples of
hair,blood,semes
V.
The DNA is cut into into short fragments by specific enzymes
VI.
The fragments produce specific banding patterns like that of
fingerprints
VII.
Used :
- Identification purposes in solving criminal cases
- Paternity disputes
- Detect human genetic diseases
- Confirm the genotyples of animals and plants in
agriculture.
f. Human Genome Project
I.
A genome :
-is an organisms complete set of genes made up of DNA
nucleotide bases
II.
Was formed to :
- Determine the sequence of all the base pairs found in
the DNA of the human genome
- Make maps showing the exact locations of genes for
major sections of human chromosomes
- Produce linkage maps where inherited traits (genetic
diseases)can be tracked over generations
8. Abuse of knowledge in genetics to mankind
a. Genetic engineering
- Raise many questions on ethics and morality
- There are unknown long-term harmful risks which
may take months or years before the harmful effects
show up
- Food previously considered safe for consumption may
become harmful if it has been genetically modified
owing to production of allergens
- GMF may contain an animal gene which may be
objectional to vegeterians
- There is a danger that a transplant gene may
activate certain human genes to cause cancer
- Laboratary GM microorganisms may be accidentally
released into the environment and spread certain
harmful genes to plants,animals and humans