Mutations and Genetics: Bio100 Sumaiya Afrin Soha
Mutations and Genetics: Bio100 Sumaiya Afrin Soha
Mutations and Genetics: Bio100 Sumaiya Afrin Soha
Bio100
Sumaiya Afrin Soha
Lecture Outline
✘ Genotype vs Phenotype
✘ Alleles
○ Homozygous
○ heterozygous
✘ Traits
○ Dominant vs. recessive
✘ Variation
✘ Mendelian Genetics
✘ Law of independent assortment
✘ Genetic disorders
Terminologies
✘ Trait – any characteristic that can be passed from parent to offspring
✘ Heredity – passing of traits from parent to offspring
✘ Genetics – study of heredity
✘ Alleles – two forms of a gene (dominant & recessive)
✘ Dominant – stronger of two genes expressed in the hybrid; represented by a capital
letter (R)
✘ Recessive – gene that shows up less often in a cross; represented by a lowercase letter
(r)
✘ Genotype – gene combination for a trait (e.g. RR, Rr, rr)
✘ Phenotype – the physical feature resulting from a genotype (e.g. tall, short)
✘ Homozygous genotype – gene combination involving 2 dominant or 2 recessive genes
(e.g. RR or rr); also called pure
✘ Heterozygous genotype – gene combination of one dominant & one recessive allele
(e.g. Rr); also called hybrid
✘ Punnett Square – used to solve genetics problems
✘ Humans have 23 pairs of chromosomes
✘ Gametes (sperm and ovum cells) are haploid (23
chromosomes), and upon fusion (known as fer6liza6on) form
an offspring with a diploid 46 (chromosomes) genome
✘ Thus, there is interaction between genes/traits passed down
by mother and father
✘ All other cells in the body (somatic cells) contain 46
chromosomes
“
✘ Traits- any observable and measurable
feature of an organism that is inherited;
e.g. height, hair color, susceptibility to
diabetes
✘ Variation- simple means “difference.”
When biological traits are different
between individuals, this is called trait
variation
Genotype Phenotype
✘ The genetic makeup of an ✘ the physical appearance of the
organism organism
Alleles to Trait
○ Homozygous: when an organism possesses two identical alleles. ex.
YY or yy
○ Heterozygous: when an organism possesses different alleles. ex. Yy
○ Dominant trait
○ Recessive trait
Mendelian Genetics
✘ Gregor Mendel
✘ Father of Genetics
✘ Used garden pea plants to study trait
inheritance pattern
Easy to grow
Easily identifiable traits
Can work with large number of samples
Produce lots of offspring
Produce pure plants when allowed to self-
pollinate several generations
Can be artificially cross-pollinate
✘ Performed hybridizations
between true-breeding
plants with different traits
and uncovered the concept
of dominant traits
✘ A form of dominance
wherein the alleles of a
gene pair in a
heterozygote are fully
expressed. This results in
offspring with a
phenotype that is neither
dominant nor recessive.
✘ Multiple allele inheritance
○ When two or more alleles
contribute to the
phenotype
○ Human blood types:
A,B,O and AB
○ A and B are codominant to
each other
○ Both A and B are
dominant over O
Incomplete Dominance
✘ When an intermediate
trait is expressed
Breeding for desirable traits!
A breeder is a person who chooses the mothers
and fathers in an organism to create children
with desired traits. Plant and animal breeders
control genetic variation in order to create:
(i) better crops
(ii) better livestock
(iii) cuter dogs
Genetic Disorders
✘ Carried in chromosomes
✘ Passed from generation to generation
Chromosomal Disorder
Single Gene Disorder
Multifactorial Disorder
Mitochondrial Disorder
The
End