IGCSE Biology

Chapter 17
Inheritance

MR. TAN WAI SHAN

MHSc Biomedical Science (UKM), BSc Microbiology (USM)
Tel: 0179181063 | Email: [email protected]
Syllabus
Definition of Inheritance
• Transmission of genetic information from generation to generation,
leading to continuity of the species and variation within it.
• DNA carrying genetic information in the form of genes.
• DNA is a very long molecule that will coil up to form a thread-like
structure called chromosomes.
• Gene is a length of DNA that codes for protein.
• Gene always exist in pair form by which the version of a gene is known
as allele.
Common Terms in Genetics
Structure of DNA
• Made up of two strands that coil together to form
a double helix
• Each strand of DNA is made of chemicals called bases.
• There are four different types of bases, shown as A, T,
C and G in the diagram.
• Exhibit complementary base pairing by which A will
always bond with T and C will always bond with G.
• As a results of the chemical cross-links between these
bases, the two strands of DNA are joined together.
Gene and Proteins
• Each gene in a molecule of DNA contains a different sequence of bases
(known as genetic code) that will encodes for a specific amino acid that
will join together to produce a particular type of protein.
• Proteins are made in the cytoplasm of a cell.
• DNA which carries the genes cannot leave the nucleus, so a copy of the
gene is needed.
• This copy is able to leave the nucleus to go into the cytoplasm so that
proteins can be made by the cell.
Protein Synthesis
• Protein structure is determined by the DNA base code.
• Proteins are made from lots of amino acids joined together.
• Each amino acid is coded by the sequence (order) of three bases (triplet).
• For example, GGT codes are found in glycine but TCA codes are found in
serine, a different amino acid.
• The sequence of bases determines the sequence of amino acids in a protein
molecule.
• DNA controls the functions of a cell by controlling its production of proteins.
Some of these proteins are enzymes, antibodies , hormones or receptors for
neurotransmitters.
Central Dogma of Molecular Biology
• Ribosomes are the site of protein synthesis.
• They are found in the cytoplasm but DNA is found in the nucleus.
• The genetic code needed to make a particular protein is carried from
the DNA to the ribosomes by a molecule called mRNA.
• When mRNA is produced from DNA is called transcription
• Whereas proteins from mRNA is called translation
Steps Involved:
• Gene is stored in the form of
DNA in nucleus.
• DNA will be transcribed to
mRNA.
• mRNA will carry a copy of the
gene to the cytoplasm and bind
to the ribosome.
• Ribosome will assemble chain of
amino acid to form protein.
• Specific order of amino acid is
determined by the sequence of
bases in the mRNA.
Gene Expression
• The process by which the information from a gene is used to synthesized a
functional gene product (protein).
• All body cells in an organism contain the same genes, but many genes in a
particular cell are not expressed because the cell only makes the specific
proteins it needs.
Haploid vs Diploid Nucleus
• Haploid nucleus is defined as a nucleus containing a single set of unpaired
chromosomes, e.g. in gametes (n=23).
• Diploid nucleus is defined as a nucleus containing two sets of chromosomes,
e.g. in body cells (2n=46).
• In a diploid cell, there is a pair of each type of chromosome and in a human
diploid cell, there are 23 pairs.
Cell Division
• Happens through two mechanisms:
• Mitosis is a nuclear division giving rise
to genetically identical cells in which
the chromosome number is
maintained by the exact duplication of
chromosome.
• Meiosis is a reduction division in which
the chromosome number is halved
from diploid to haploid. Meiosis will
lead to genetic variation.
Significance of Mitosis
• Mitosis is the way in which any cell (plant or animal) divides when an organism is:
• growing
• repairing a damaged part of its body
• replacing worn out cells
• asexual reproduction
• Growth means getting bigger. An individual cell can grow a certain amount, but not
indefinitely.
• Once a cell gets to a certain size, it becomes difficult for all parts of the cell to obtain
oxygen and nutrients by division.
• In order to grow any more, the cell divides to form two smaller cells, each of which can
then grow and divide again.
Process of Mitosis
• Before mitosis, all the chromosomes in the parent cell are copied (duplicated).
• Each copy remains attached to the original one.
• Each chromosome is made up of 2 identical threads joined together (chromatid).
• During mitosis, each chromosome will separate to form 2 chromosomes.
• The parental cell will split to form 2 nuclei each with 2 chromosomes as the
parent nucleus cell.
• At the end of a mitotic cell division, the number of cells is doubled.
• The daughter cells produced are genetically identical to the parent and the
chromosomal number is maintained.
Cell Specialization
• After fertilization, the zygote then divides many times by mitosis to form
an embryo.
• The first division of the zygote forms two cells, the next four, the next
eight, and so on. Up to the eight-cell stage, all of the cells are identical.
They are called embryonic stem cells.
• It is possible for embryonic stem cells to develop into any other
specialised type of cell that the growing embryo needs - for example,
nerve cells, blood cells and muscle cells.
• However, once the embryonic stem cells become specialized, they can't
change into any other type of cell.
• The specialized cells can form all the different types of tissue that the
embryo needs.
Meiosis
• Human gametes are formed by
meiosis in the ovaries and testes.
• Gametes have only half the number of chromosome
of a normal body cell.
• They have 1 set of chromosome (haploid).
• When they fuse together, the zygote formed will resume the diploid status.
• The gametes produced are haploid, but they are formed from diploid cells.
Hence, meiosis involves halving the normal chromosome number by which
the pairs of chromosomes are separated.
• During meiosis, the new cells get a mixture of homologous chromosomes from
father and mother.
• A sperm cell could contain a chromosome 1 from father and a chromosome 2
from mother.
• The chromosome could also undergo crossing over to obtain new hybrid.
• There are all sorts of combinations. As a result, the gametes produced are
genetically different from the parent cells.
• Thus, meiosis leads to genetic variation.
Sex Determination by Chromosomes
• When ova are formed in a woman, all the ova will carry an X chromosome.
• When sperm are formed in a man, half the sperm will carry an X
chromosome, half will carry a Y chromosome.
• If the offspring was inherited with X chromosome from the mother and
another X chromosome from the father, pair of XX chromosome will
produce a female offspring.
• If the offspring was inherited with X chromosome from the mother and
another Y chromosome from the father, pair of XY chromosome will
produce a male offspring.
Genotype and Phenotype
• GENOTYPE: the genetic make-up of an organism in terms of the
alleles present.
• PHENOTYPE: the observable features of an organisms.
• Gene is always in paired form. One from maternal, the other from
paternal.
• Different forms of a gene are called ALLELES.
• Some alleles can be DOMINANT (express in the phenotype) or
RECESSIVE (hidden when it is present along with the dominant gene).
• Dominant alleles are always expressed in a cell’s phenotype.
• Only one copy of the dominant allele needs to be present for that
characteristic to be expressed.
• Dominant alleles are represented by a capital letter, e.g. brown eyes would
be B since brown eyes are dominant to blue eyes.
• Recessive alleles are represented by a lower case e.g. blue eyes would be b.
• Only expressed when two copies of the allele are present.
• If only one is present, then it becomes ‘masked’ by the dominant allele, e.g.
brown eyes is dominant so Bb would show the brown eye characteristic
(phenotype).
• Blue eyes will only be expressed if the genotype is bb.
• When two of the same alleles for a gene are present, the genotype is
said to be homozygous e.g. BB or bb.
• But if different alleles are present for the same gene, e.g.. Bb, then they
are said to be heterozygous.
Pure Breed
• When an organism has two of the
same forms of a gene (homozygous),
then they are known as pure
breeding.
• Looking at the example – in each
case the eye colour of the offspring is
always identical to that of the
parents.
• The members of the strain are
described as being pure-breeding.
Monohydrid Cross
• Monohybrid crosses are between two true
breeding parents showing different versions of
the same gene (homozygous dominant versus
homozygous recessive).
• In the example, H represents straight hair and
h represents wavy hair.
• F2 Generation = HH (Straight hair), Hh (Straight
hair), Hh (straight hair) and hh (wavy hair)
• F2 genotype ratio = 1 HH : 2 Hh: 1hh
• F2 phenotype ratio = 3 straight hair : 1 wavy
hair
• Reasons for the difference between predicted and observed results
• The actual numbers of offspring produced of each type is unlikely to be
exactly the same as expected or predicted.
• The reasons for this difference are:
• fertilization is a random process
• the sample was not big enough
 • Test cross can be used to identify the unknown genotype of parents.
Test Cross
Co-Dominance
• Happens when the two alleles of a gene neither is dominant nor
recessive.
• Co-dominant alleles are both displayed in the phenotype.
• Example: blood groups
• Groups A, B, O and AB
• A and B are co-dominant
Sex-Linkage
• Sex linkage refers to when a gene controlling a characteristic is located on
a sex chromosome (X or Y)
• The Y chromosome is much shorter than the X chromosome and contains
only a few genes. The X chromosome is longer and contains many genes
not present on the Y chromosomes.
• Hence, sex-linked conditions are usually X-linked as very few genes exist
on the shorter Y chromosome.
• Sex-linked disease more common in one sex than in the other.
• Example: colour-blindness and haemophilia.
• As human females have two X chromosomes (and therefore two alleles),
they can be either homozygous or heterozygous
• Hence, X-linked dominant traits are more common in females.
• Human males have only one X chromosome (and therefore only one allele)
and are hemizygous for X-linked traits.
• X-linked recessive traits are more common in males, as the condition cannot
be masked by a second allele.
Colour Blindness
Questions
By using a genetic diagram, calculate the phenotypic ratios obtained for the
following scenario.
i. The phenotypic ratio for the blood group of the offspring when a blood
group AB men married a blood group O women.
ii. The phenotypic ratio for the blood group of the offspring when a blood
group B men (heterozygote) married a blood group O women.
iii. The phenotypic ratio for the offspring with colour blindness when a
normal men married a female carrier.
iv. The phenotypic ratio for the offspring with colour blindness when a
colour blind men married a normal female.
Pedigree Analysis
• Doctors can use a pedigree analysis chart to show genetic disorders
are inherited in a family.
• They can use this to work out the probability (chance) that someone
in a family will inherit a condition.
• This is called pedigree analysis.
• All the family members are mapped onto a family tree.
• Those with and without a certain trait, in this case sickle cell disease,
are shown.
• In the diagram those with sickle
cell disease are shown by blue
shaded symbols; squares for
males and circles for females.
• In the diagram, a family tree is
shown for the chance of
inheriting sickle cell disease.
• The doctors will not know for
certain if someone will inherit
and will recommend further tests
if necessary.
• Alfie and Esme both have sicke cell disease.
• Of their four children, three have sickle cell, one does not (Thomas).
• One child, Abi who has sickle cell disease, has children with Theo, who has
normal cells.
• They have four children. Two have normal cells and one has sickle cells.
• Doctors can work out the chance of Bob having sickle cells. What is the
probability that Bob will have sickle cell disease?