Lecture 1 Flashcards
Who layed the formal discipline for genetics?
Gregor Johann Mendel
What did Mendel use for his studies of inheritance
The garden peas
What is ‘Transmission Genetics’?
The study of how genes are transmitted from the parents to their offspring. The principles of this study were directly taken from mendels studies.
What traits did Mendel pay attention to?
Stem height, seed shape and color, pod shape and color, as well as flower color.
What made Mendel’s studies with the pea plants successful?
Chose the suitable organism, focused on a few contrasting traits, kept accurate quantitative records, and appropriate analysis, which lead to the formation of his postulates.
What are Mendel’s first three postulates?
Unit factors in pairs, Dominance and recessives, and segregation
Explain the Unit Factor Postulate
A specific unit factor exists for each trait. Each diploid individual (ex. baby) receives one factor from each parent.
Explain the Dominance/ Recessiveness postulate
When one unit factor overpowers the other, it is known as dominant. When the unit factor is overpowered, then it is known as recessive.
Explain the Segregation postulate
When gametes are being made, the paired unit factors will separate randomly so that each gamete can receive one or the other with equal likelihood.
Define phenotype
When the trait is being physically expressed
What do unit factors represent?
Genes
Define allele
alternative forms of a gene
Define genotype
The genetic makeup of an individual
Define Homozygous
When the alleles are the same (that individual is a homozygote)
Define Heterozygous
when the alleles are different (that individual is a heterozygote)
What is the product law?
The probability of two or more independent events happening randomly = the product of their individual probabilities
Exaplain the law of independent assortment
The segregation/ separation of any pair of unit factors occurs independently of all others.
What is a mutation?
Change in the DNA sequence, the mutation can be inherited
What is the source of all genetic variation?
Mutations
What do mutations do to the proteins that will be made from them?
modify or discard the proteins usual functions, and may lead to changes in the phenotype of the individual
What causes sickle cell anemia?
an altered form of hemoglobin
What proteins make up hemoglobin?
a-globin and b-globin, each of them are coded by a different gene
Where does the mutation causing sickle cell anemia occur?
In one of the nucleotides making up b-globin. (CAC–>GUG–>Valine–>mutated b-globin–>sickle cell anemia)
What does sickle cell anemia cause?
Block blood flow in the capillaries and small blood vessels, severe pain, heart damage, kidney damage, muscle damage,
