BIO310 – Chapter 11 Genetics – summary notes

Terminology:
1. Genetics - The study of genes and heredity.
2. Gene - A unit of heredity composed of DNA.
3. Locus /Loci (plural) - A specific, fixed position on a chromosome where a particular gene
is located.
4. Genome - The complete set of genes in the chromosomes of a particular
organism. (or) All the genes contained in a single set of
chromosomes i.e. in a haploid nucleus.
5. Chromosomes - A thread-like structure that composed of chromatin and carries the
genes in a linear sequence found in the nucleus of plant and animal.
6. Homologous chromosomes - Chromosomes that are having the same structural features.
7. Sex chromosomes - Chromosomes that determine the gender of an individual.
8. Autosomes - Chromosomes that do not determine the gender of an individual.
9. Alleles - The different forms of homologous genes.
10. Dominant alleles - The allele that is expressed in the phenotype of a heterozygote.
11. Recessive alleles - The allele that is not expressed in the phenotype of a heterozygote.
(or) The allele that is expressed only in the phenotype of a
homozygote with two recessive alleles.
12. Homozygous - Having the same type of alleles.
Eg. Homozygous dominant alleles: EE
Eg. Homozygous recessive alleles: ee
13. Heterozygous - Having different type of alleles, eg. Ee
14. Traits - The distinguishing characteristics of an individual.
15. Genotype - The complete set of genes and alleles of an individual.
16. Phenotype - The observed physical and functional traits that characterize an
individual. (or) The physical appearance of an individual.
17. Monohybrid cross - A genetic cross between individuals that differ in one characteristic.
18. Dihybrid cross - A genetic cross between individuals that differ in two characteristics.
19. Test cross - A cross (mating) between an individual of unknown genotype with
an individual of homozygous recessive genotype.
20. Carrier - An individual who appears normal but can pass on an allele for a
genetic disorder.
Genetic Variation
- In sexual reproduction, the behaviour of chromosomes during meiosis and fertilization is
responsible for most of the genetic variation amount offspring.

Mechanisms that contribute to the genetic variation:

1. Independent assortment of chromosomes.
The alignment of homologous chromosomes at metaphase of meiosis I is determined by chance,
therefore, the maternal and paternal chromosomes will be randomly distributed to daughter
nuclei.

If there are two homologous pairs of chromosomes, the possible combinations of

chromosomes in gametes is 22 = 4. Human has 23 pairs of homologous chromosomes,
so, the possible combinations of chromosomes in the gametes will be 223, about 8 millions.

2. Crossing over
During prophase of meiosis I , chromosome can break and precisely exchange gene
segments with their homologous counterparts to form recombinant chromosomes.

3. Random fertilization of eggs and sperm

The random nature of fertilization adds to the genetic variation arising from meiosis.
For instance, each male and female gamete represents one of approximately 8 million possible
chromosome combinations due to independent assortment during meiosis. The fusion of a
single male gamete with a single female gamete during fertilization will produce a zygote with
about 8 million x 8 million = 64 trillion diploid combinations…Adding in the variation caused by
crossing over, no wonder brothers and sisters can be so different!
MENDELIAN INHERITANCE
- Gregor Mendel (1822 – 1884) - Fathers of modern genetics
- First proposed basic principles of heredity.
- Made revolutionary discoveries about inheritance patterns in pea plants.

Monohybrid cross:
- Mendel worked with pea plants and selected seven traits to study that each occurred in two
different forms.

- One of the traits he studied was pod colour.

Eg. Some pea plants have green pods → dominant.
Others have yellow pods → recessive.

Mendel cross-pollinated a true-breeding yellow pod plant with a true-breeding green pod plant.

Mendel noticed all of the resulting offspring, F1 generation, were all green.

He then allowed all of the green F1 plants to self-pollinate.

He referred to these offspring as the F2 generation.

Mendel noticed a 3:1 ratio in pod colour in F2 generation.

Mendel’s First Law: Law of segregation

- State that during the production of gametes the two copies of each hereditary factor segregate
so that offspring acquire one factor from each parent.
Dihybrid cross:
- Mendel performed dihybrid crosses (mating of parent plants that differ in two traits) in plants that
were true-breeding for two traits, eg. colour of pod and colour of seed.
Eg. 1. a plant with green pod and yellow seed (GGYY) was cross-pollinated with a plant with yellow
pod and green seed (ggyy).
In this cross, the traits for green pod (GG) and yellow seed (YY) are dominant.
yellow pod (gg) and green seed (yy) are recessive.

Dominant : Green pod (GG)

: Yellow seed (YY) GGYY X ggyy P generation
Recessive : Yellow pod (gg)
: Green seed (yy)

F1 generation

All F1 generation have green pod and yellow seed.

Mendel then allowed all of the F1 plants to self-pollinate.

He referred to these offspring as the F2 generation.

F2 generation

He noticed in F2 generation: 9 had green pod and yellow seed,

3 had green pod and green seed,
3 had yellow pod and yellow seed, and
1 had a yellow pod and green seed.
A phenotypic ratio of 9:3:3:1 in the F2 generation.

Eg. 2. Dihybrid cross of colour of seed and shape of seed.

Mendel’s second Law: 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.
Punnett Square
- A diagrammatic device for predicting the ratios of possible offspring genotypes and phenotypes of
a particular combination of alleles.
Eg. Cross Bb x Bb

*When constructing a Punnett Square, it consists of: 1. The keys

2. The square
3. The ratios: genotypic & phenotypic ratios.

Type of inheritance
A. Dominant-Recessive Inheritance/Traits
- Has 2 types of phenotypes: dominant phenotype and recessive phenotype.
- Dominant phenotype is more frequent than the recessive phenotype in a population.
- As long as a person has one dominant allele, he will exhibit the dominant phenotype.
- A person with homozygous dominant or heterozygous alleles will exhibit the dominant
phenotype whereas a person with homozygous recessive alleles will exhibit the recessive
phenotype.
- Dominant allele is usually symbolised by a capital letter whereas the recessive allele is
symbolised by the small letter.

Eg. Widow’s peak (WW or Ww) & Straight hairline (ww)

Unattached earlobes (EE or Ee) & Attached earlobes (ee)
others…

Autosomal Dominance Disorder

- 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.

AA, Aa - affected
aa - normal/unaffected
Eg. Huntington Disease, Neurofibromatosis, Achondroplasia, Familial hypercholesterolemia,
Lactose intolerance, Marfan syndrome.

Autosomal Recessive Disorder

- An autosomal recessive disorder means two copies of an abnormal gene must be present in
order for the disease or trait to develop.

AA, Aa - normal/unaffected
aa - affected
Eg. Albinism, Thalassemia, Cystic fibrosis, Phenylketonuria, Tay-Sachs disease.
B. Incomplete Dominance Inheritance
- Incomplete dominance is exhibited when the heterozygote has an intermediate phenotype
between that of either homozygote.

Eg.1. Pink flower

Eg.2. Human hair texture: Curly-Wavy-Straight hair.

HH – curly hair
HH’ – wavy hair
H’H’ – straight hair

Eg.3. Sickle-cell disease

HbA HbA – normal
HbA HbS – sickle-cell trait or carrier
HbS HbS – sickle-cell disease
- Sickle-shaped red blood cells cannot pass along narrow capillary passageways as disk-
shaped red blood cells do; they clog the vessels and break down.
- Persons with sickle-cell disease suffer from poor circulation, anemia, and poor resistance
to infection. Internal hemorrhaging leads to further complications, such as jaundice,
episodic pain in the abdomen and joints, and damage to internal organ.
- Persons with sickle-cell trait or carrier do not usually have any sickle-shaped red blood
cells unless they experience dehydration or mild oxygen deprivation.
- Among regions of malaria-infested Africa, infants with sickle-cell disease die, but infants
with sickle-cell trait have a better chance of survival than the normal homozygote.
- The malaria parasite normally reproduces inside the red blood cells. The red blood cell of
a sickle-cell trait infant becomes sickle-shaped if it becomes infected with the malaria-
causing parasite. As the cell becomes sickle-shaped and loses potassium, the parasite dies.
- The protection afforded by the sickle-cell trait keeps the allele prevalent in populations
exposed to malaria.

C. Codominance Inheritance
- A condition in which both alleles of a gene pair in a heterozygote are fully expressed, with
neither one being dominant or recessive to the other.
- In a person with blood type AB, the allele (IA) and allele B (IB) are fully expressed.

Eg. Blood type AB

Comparison between Dominant-Recessive, Incomplete Dominance & Codominance Inheritances.

D. Multiple Allele Inheritance

- When a trait is controlled by multiple alleles, the gene exists in several allelic forms.
- Each person usually has only two of the possible alleles.
Eg. ABO blood type is determined by multiple alleles.
- There are 3 types of alleles in the ABO blood type: allele A (IA), allele B (IB), and allele O (i).

IA IA or IA i - Blood type A
IB IB or IB i - Blood type B
IA IB - Blood type AB
i i - Blood type O

E. 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 quantitative effect on the phenotype, and these effects are additive.
- Has a continuous variation of phenotypes and the distribution of these phenotypes resemble a
bell-shaped curve. Few people have the extreme phenotypes whereas most people have the
phenotype that lies in the middle.
- The more genes involved, the more continuous the variation and the distribution of the
phenotypes.
- Environmental effects cause many intervening phenotypes or phenotypes are affected by
environmental factors.

Eg.1. skin colour

 How many pairs of alleles control skin colour is not known. If it is controlled by 2 pairs of
alleles and that each dominant allele (capital letter) contributes pigment to the skin:

Genotypes Phenotypes
AABB Very dark
AABb or AaBB Dark
AaBb or AAbb or aaBB Medium brown
Aabb or aaBb Light
aabb Very light

Eg.2. Height is another example of polygene inheritance.

Eg.3. Polygenic Disorders: cleft lip and/or palate, club-foot, congenital dislocation of the hip,
hypertension, diabetes, schizophrenia, and even allergies and cancers, are most likely controlled by
polygenes and are subject to environmental influences.

F. Sex-linked Traits/Inheritance
- Sex-linked genes are located on the sex chromosome, but these genes are not involved in the
determination of sex.
- Sex-linked genes can be located either on X chromosome (X-linked trait) or Y chromosome (Y-
linked trait).
- In human, most of the sex-linked genes are carried on the X chromosome and the Y chromosome
is blank for these genes.
- Most X-linked traits are recessive.
- Male only requires one recessive allele to be affected, while female requires two recessive alleles
to be affected. Male has a higher frequency for the X-linked disorder.
- X-linked trait passes from MOTHER to SON, but never from the father to son.

Eg: 1. Colour blindness

XB XB – normal female
XB Xb – carrier female
Xb Xb – colour blind female
XB Y – normal male
Xb Y – colour blind male

Eg.2. Haemophilia
XH XH – normal female
XH Xh – carrier female
Xh Xh – haemophiliac female
XH Y – normal male
Xh Y – haemophiliac male

Haemophilia is called the bleeder’s disease because the affected person’s blood does not
clot or clots very slowly.
Pedigree Chart/Analysis
- Usually represent males as squares and females as circle.
- A horizontal line connecting a circle and square represents a mating.
- The generations in a pedigree are usually denoted by Roman numerals.

II

Abnormalities in Chromosome Structure

- Physical and chemical disturbances as well as error during meiosis can damage chromosome
structure.
Process that can cause Abnormalities in Chromosome Structure:

1. Duplication
- When normal chromosomes have gene sequences that are repeated several times to many
hundreds of thousands of times.

2) Inversion
- a linear stretch of DNA within a chromosome becomes oriented in reverse direction with no
molecular loss.

3) Translocation
- involves the re-attachment of broken chromosomes to non-homologous chromosomes.
- Normally, most translocations are reciprocal. (both chromosomes exchange broken parts)
4) Deletion
- caused by viral attacks, irradiation, chemical assaults and other environmental agents.
- Some fragments of a chromosome are loss.

Eg. of disorders:
1. Cri du chat syndrome or cat cry syndrome
- Deletion of DNA on small arm of chromosome 5.
Symptoms: high-pitched cat-like cry, mental retardation, delayed development, etc.

2. Chronic myelogenous leukemia (CML)

- Reciprocal translocation between exchanges of a large portion of chromosome 22 with a small
fragment from a tip of chromosome 9 produces a much shortened chromosome 22 called the
Philadelphia chromosome.

3. Fragile X Syndrome
- The X chromosome is nearly broken, leaving the tip hanging by a flimsy thread.

Abnormalities in Chromosome Number

- Caused by non-disjunction: the homologous chromosome fails to separate during meiosis I or the
sister chromatids fails to separate during meiosis II.
- As a result, one gamete receives 2 of the same type of chromosome while another receives no copy.

Eg. of disorders:
Syndrome Sex Disorder Chromosome Number
i. Down M or F Trisomy 21 47
ii. Poly-X F XXX or XXXX 47 or 48
iii. Klinefelter M XXY or XXXY 47 or 48
iv Jacob or Supermale M XYY 47
v. Turner F XO 45

The End & Happy Reading