Goal: To understand the Punnet square calculations and purposes.
GENETICS
A GENE is a heritable factor that consists of a length of DNA and influences a specific
characteristic.
ALLELES are the various, specific forms of a gene that usually vary from each other by one or a
few bases.
GENE LOCUS refers to the specific position of a gene on a chromosome.
Loci refers to plural of locus.
Having a pair of each kind of chromosome is called the diploid state. (46 chromosome)
Having one copy of each chromosome is the haploid state. (23 chromosome) Example: sperm
and egg
Like most eukaryotes, humans are diploid and inherit one copy of each chromosome maternally
and the paternally. As a result, humans have two copies every gene.
Have an extra chromosome in the chromosome 21(47 chromosomes) is called Down´s
syndrome.
You may inherit the same allele from both parents, and you may inherit two different alleles.
You are homozygous for a gene if you have two copies of the same allele; you are heterozygous
if you have two different alleles.
The alleles you have for a gene is called your genotype.
The trait you have a s a result of your alleles is called you phenotype.
PHENOTYPE: The physical characteristics that we can see. Visible/physical characteristics of
organisms. (Partial part of the genome that we have)
GENOTYPE: the genetic information that an organism has. ALL the genetic information.
There are two types of characteristics: dominant and recessive.
DOMINANT: are the genes that are more visible and the more frequent ones.
RECESSIVE: are the genes that are less visible and the less frequent ones.
Siempre que hay una característica dominante esa es la que se va a ver.
Para que se pueda ver un gen recesivo se requiere que hallan SOLAMENTE dos genes recesivos.
Example of a Punnet square:
A= dominant a=recessive
F1= first generation (papas)
a a
A Aa Aa
A Aa Aa
Genotype ratio= [Link] (dominant homozygous: heterozygous: recessive homozygous)
Phenotype ratio= 4:0
F2= second generation (sons)
A a
A AA Aa
a Aa aa
Genotype ratio= [Link] (dominant homozygous: heterozygous: recessive homozygous)
Phenotype ratio= 3:1 (we can see 3 dominant and 1 recessive alleles)
Exercise:
If there is a cross between 2 heterozygous calculate:
1) The probability for pink flowers appearing.
2) The probability for recessive homozygous appearing.
3) Use a Punnet square for calculations.
Pink= b
Yellow= B
B b
B BB Bb
b Bb bb
1) The probability is 25%
2) The probability is 25%
Bb x bb
B b
b Bb bb
b Bb bb
Genotype ratio= [Link] (dominant homozygous: heterozygous: recessive homozygous)
Phenotype ratio= 2:2 (we can see 2 dominant and 2 recessive alleles)
1) The probability for pink flowers appearing.
50%
2) The probability for recessive homozygous appearing.
50%
MUTATION
When DNA is replicated, sometimes errors are made. The daughter cells then contain DNA that
differs from the DNA in the parental cell. These changes in DNA sequence are called mutations.
All new alleles are created by mutation. However, once a new allele exists it is copied and
passed on in the same manner as the original sequence.
There are several causes for mutations. We know that the DNA replication mechanism can make
mistakes; it is very fast enzymatic process, where several hundred new bases per second are
incorporated in a new strand. Even with “proofreading” enzymes, occasionally a mistake will be
made.
Date: September 18
Goal: To understand the basic concepts on genetics topics.
Date: October 5
Goal: To summarize and re-take previous genetics concepts.
MUTATION
Mutations can be caused by exposure to radiation and some chemicals, known as mutagens. If
the mutagens cause tumorigenesis, then they are also known as carcinogens.
Examples: Chemical agents, radiation, pollution, life habits.
One example of mutation is cancer.
The glifosate that is used for the protection of crops, since it has DDT that is organchlorate the
one affects the process of replication of DNA so it will cause cancer.
Mutations can cause bases to be deleted from or added to the DNA sequence. Mutations can
also cause a different nitrogenous base to be used in a particular place, for example guanine
could be used where adenine should have been. A mutation that changes on nitrogenous base
in a sequence is called BASE-SUBSTITUTION MUTATION.
The result of a base-substitution event depends on many factors. Some mutations occur in a
stretch of DNA that does not code for a polypeptide. Some mutations in protein coding genes
cause no change because the genetic code includes multiple codons for the same amino acid,
the polypeptide formed might work differently or not at all.
The new alleles formed by mutation are usually harmful or neutral to an organism´s ability to
survive and reproduce. Occasionally, an allele is formed that has some advantage. Evidence
suggests that all life on Earth shares a common ancestor. From that original species, every
difference between each and every living thing on Earth, from palm trees to E. coli to humans
has arisen by mutations.
The human shares the 99% of DNA with the Pan Troglodytes(pig) and Gorrilla Gorilla
(chimpanzee)
HUMAN GENOME PROJECT
The Human Genome Project began in 1990 with the aim of determining the complete sequence
of the human genome and identifying every gene that it contains. It was a multinational
and multidisciplinary initiative involving laboratories around the world. The whole human
genome was estimated to be around 3.2 billion bases. Based on the techniques available in
those days, it was anticipated that it would take around 15 years to sequence.
Technological advances sped up the sequencing and, in 2003, two years ahead of schedule,
the first complete human genome was published.
SICKLE CELL ANEMIA
Is a common genetic disease in areas where malaria is endemic. Sickle cell anemia is the most
common type of a sickle cell disease, and these terms are sometimes used interchangeably.
It can include crisis events of extreme pain, weakness, heart attack or stroke, pneumonia, bone
malformations and death. All these many effects come from a single-base substitution on T
instead of an A out of the whole 3.2 billion base genome.
The gene involved is a stretch of DNA on chromosome 11 called HBB. Its codes for the beta
A allele reads GAG
subunit of hemoglobin, a polypeptide 146 amino acids long. The standard Hb
at the 6th triplet of the sense DNA strand. The Hb S allele reads GTG in the same location. Otherwise,
alleles are identical.
Date: October 18, 2023
Aims: To understand the crossing over process and reflect about the importance of genetic variability
and sexual reproduction.
STAGES OF MEIOSIS
In sexual reproduction, two diploid individuals each contribute half of their DNA to produce offspring
with a new and unique combination of alleles. Meiosis makes this possible by producing nuclei
containing exactly one copy of each gene. These nuclei are found in the reproductive cells (gametes).
Mitosis is with somatic cells (46 chromosomes=2n diploid), example: skin muscle.
Meiosis is with gametes, example: egg and sperm cells (each one has 23 chromosomes= n
haploid)
