BIOLOGY – GENETICS AND EVOLUTION SUMMARY – YEAR 10 SCIENCE

DEFINITIONS:

Allele A version of a gene eg: eye colour may have a brown allele and a blue allele

Haploid Containing only half the normal number of chromosomes

Chromosome Long, thread-like structures found in the nucleus , made up of genes

Deoxyribonucleic Acid – molecule that carries the genetic code or blueprint for making
DNA
the organism

The gene which determines the outcome, represented by a capital letter, it is always
Dominant
expressed in the phenotype

‘Family Tree’ which shows genetic information about how characteristics have been
Pedigree Chart
passed on through generations

Gene A portion of a chromosome that codes for a particular characteristic or trait

Diploid Has the full amount of chromosomes

Heterozygous Having two different alleles - one dominant and one recessive allele for a trait (‘mixed’)

Having both the same type of allele for a trait, ie: either both dominant, or both
Homozygous
recessive

The process of genetic transmission of characteristics from parent or ancestor to

offspring.
Inheritance/Heredity

The study of heredity, or how the characteristics of living things are transmitted from
Genetics
one generation to the next. The basic unit of heredity is the gene

A karyotype is a picture of the number and appearance of an individual’s

Karyotype chromosomes, and includes their length and banding pattern, usually displayed as pairs
in descending order of size

Mutation A change or abnormality in a gene or chromosome

Another term for heterozygous or hybrid – has one dominant and one recessive allele
Carrier
for a characteristic

Punnett Square Used to show the predicted outcomes of a genetic cross

Pure breeder Homozygous genotype; has two of the same alleles for a characteristic

The characteristic that is masked by a dominant allele; is only expressed if there is two
Recessive
recessive alleles

Sex-linked The gene is carried on the X chromosome

Genotype The letters that show what alleles an organism has, eg: BB or Bb or bb

Phenotype The description of what the genotype means, eg: black hair, tongue roller, red flowers

Generation Group of people born around the same time

XX Female chromosomes

XY Male chromosomes

Hybrid Another word for heterozygous – has a dominant and a recessive allele

Gametes Sex cells – sperm and eggs

DNA

• DNA stands for Deoxyribonucleic Acid

• It makes up the genetic code of the organism; it contains the instructions needed to
determine the characteristics of an organsim

• It is a very long molecule that looks a bit like a twisted ladder called a double helix

• Base A (adenine) always joins up with Base T (thymine)

• Base C (cytosine) always joins up with Base G (guanine)

• So, if one side of the ladder has a base sequence of CAACGGTTT, then the other side will be
GTTGCCAAA

SEX CELLS

 Sex cells are sperm and eggs.

 Another name for sex cells is gametes
 At fertilization the male and female sex cells will provide ½ of the chromosomes each – so
the offspring has genes from both parents
 The new cell formed when a sperm joins an egg will have 23 chromosomes from the mother
and 23 chromosomes from the father, thus resulting in 46 chromosomes in total
 If the gametes did not carry half the normal number of chromosomes, the offspring would
end up with double the right amount!

MONOHYBRID CROSSES

• Genes come in pairs

– One from the mother

– One from the father

• Both genes contain instructions for the same trait (ex. Hair colour)

• Possible codes for a particular gene

• One allele may code for brown hair

• The other may code for blonde hair

• The dominant allele is always expressed

• A monohybrid cross is a mating between 2 organisms involving only 1 gene.

• It allows predictions to be made about the possible genetic make up of the offspring

• A punnett square is usually used to display the predicted results of a monohybrid cross

• The original organisms that are crossed are the parents.

Example:

Fuzzy hair on dogs is dominant over straight hair. Calculate the expected genotypes and
phenotypes of the offspring that could be produced when a heterozygous fuzzy dog breeds
with a straight haired dog.

SEX LINKED CROSSES

• Humans have 23 pairs of chromosomes.

• One pair is responsible for determining the sex of the offspring.

• These chromosomes are called the sex chromosomes. There are two types - X and Y.

XX - Female

XY - Male

• Sperm cells can contain either a X or a Y chromosome, plus 22 others. Ova only contain X
chromosomes, plus 22 others.

• All offspring get an X chromosome from their mother.

• It depends on which chromosome the father's sperm cell is carrying - X or Y - as to whether

the baby is a boy or a girl.

• Certain characteristics in humans are linked to the sex chromosomes.

Sex linkage affects are seen mainly in males. The reason for this is that X and Y chromosomes are
different sizes. There are a number of genes on the X chromosome that have no equivalent on the
smaller Y chromosome, like colour vision and blood clotting.
PEDIGREES

• Pedigrees are a type of family tree containing genetic information

• They are used to determine the genotypes of individuals in a family and to better determine
the probability of a child getting a trait.

• Multiple generations are considered in pedigrees.

Example: Trait: Falconi anaemia

 The dominant form is normal bone marrow function - in other words, no anaemia.
 The recessive form is Falconi anaemia. Individuals affected show slow growth, heart
defects, possible bone marrow failure and a high rate of leukemia.

A typical pedigree for a family that carries Falconi anemia.

Ff

ff

Ff

Ff or FF
MUTATIONS:

Changes in the nucleotide sequence of DNA:

• May occur in somatic (body) cells (aren’t passed to offspring)

• May occur in gametes (eggs & sperm) and can be passed to offspring

Two ways in which DNA can be mutated:

- Mutations can be inherited.

- Mutations can be acquired (Environmental damage or mistakes when DNA is
copied)

• Mutations may occur by exposure to MUTAGENS, which are mutation-causing agents

Examples:

- Radiation such as X-rays, Gamma rays, UV light

- Chemicals such as benzene, asbestos

Chromosome mutations:

May Involve:

• Changing the structure of a chromosome

• The loss or gain of part of a chromosome

Four types exist:

• Deletion

• Inversion

• Duplication

• Translocation

Example: Down Syndrome

• Chromosome 21 does not separate correctly.

• They have 47 chromosomes in stead of 46.

Gene Mutations:

May Involve:

• Change in the nucleotide sequence of a gene

• May only involve a single nucleotide

• May be due to copying errors, chemicals, viruses, etc.

Three types exist:

• Insertion

• Substitution

• Deletion
EVOLUTION:

 Evolution is the gradual development of different species from a common ancestor

 Natural Selection: Organisms that are best adapted to an environment survive and
reproduce more than others

 Darwin’s Theory of Natural Selection occurs in four steps:

 Overproduction

 Variation

 Competition

 Selection

 Individuals with traits that are not well suited to their environment either die or leave few
offspring.

 Evolution occurs when desired traits build up in a population over many generations and
undesirable traits are eliminated by the death of the individuals.

EVIDENCE FOR EVOLUTION – key idea: evolution involves gradual changing of species (developing
new species) over time from a common ancestor.

 Fossil Record - a record of the history of life on Earth; fossils of organisms that are a
transition between extinct and current species show evidence of change in species over time

 Homologous Body Structures - similar anatomy in different types of animals because of

common ancestor

 Vestigial Organs - “leftover” traces of structures that serve no purpose showing evidence of
species changing over time.

 Embryology - embryos of all vertebrates are very similar early on suggesting a common
ancestor

 Biochemical Evidence - DNA with more similar sequences suggests species are more closely
related Eg: Humans and chimpanzees share more than 98% of identical DNA sequences.
Closely related species suggest a common ancestor