Lactase Persistence
Where does Lactase Persistence occur?
MCM6 and Lactase gene in Chromosome 2
Both the MCM6 and Lactase Gene, who are neighboring genes, reside on chromosome 2.
When does Lactase Persistence occur?
Inherited at Birth
-Lactase Persistence is inherited at birth and is an autosomal dominant trait, meaning that only one parent has to pass on the Lactase Persistence gene for the offspring to have Lactase Persistence throughout their life.
What is my collab theme for my Mutations X Collab summative?
Mutations X Jeopardy
Where does sickle cell Anemia occur?
Hemoglobin subunit beta (HBB) gene on Chromosome 11
When does sickle cell Anemia occur?
Inherited at birth
-The mutated gene of sickle cell anemia is passed down at birth by both parents passing down one Sickle Cell Disease (SCD) gene. This causes a coding of abnormal hemoglobin proteins and leads to sickle cell anemia.
What is lactase persistence?
A beneficial mutation that allows someone to consume lactose in their adult years
What is the purpose of the Lactase gene?
The lactase gene is the gene that allows the production of the enzyme lactase, and is what allows us to digest lactose, a sugar found in foods like milk from mammals, in our adult years.
Which mutation (Lactase Persistence vs. Sickle cell anemia) is the beneficial mutation?
Lactase persistence
What is sickle cell Anemia?
A harmful mutation that shapes blood cells into sickle, rigid shapes. The unusual shape is harmful because they can stick to blood vessels and harm organs, causing anemia and may cause death.
What is the purpose of the hemoglobin-beta gene?
Produce a protein called Hemoglobin
-Hemogoblin is a protein that transports oxygen from the lungs to the rest of your body and is produced in the Hemoglobin subunit beta gene.
What type of mutation is lactase persistence? (Substitution, insertion, etc.)
Substitution but a silent mutation
What type of mutation is lactase persistence? (gene vs chromosomal)
A gene mutation
Which mutation (Lactase Persistence vs. sickle cell anemia) is the harmful mutation?
Sickle cell anemia
What type of mutation is sickle cell Anemia? (Gene vs. Chromosomal)
Gene mutation
What type of mutation is sickle cell Anemia? (Substitution, insertion, etc.)
Missense/substitution
-A codon changes from GAG to GTG, which is a root cause of the sickle cell anemia mutati
What is the MCM6 Gene?
MCM6 gene is a neighboring gene of the lactase gene, and is a switch gene for the lactase gene.
What is the outcome of the lactase persistence mutation?
Allows someone to consume lactose products like milk in their adult years; the opposite of lactose intolerance
How many days/months did I take extra to turn this summative project in?
53 days / around 2 months
Sorry!
What hydrophilic amino acid is replaced by what hydrophobic amino acid for sickle cell Anemia to occur?
Glutamic Acid; Valine
-There is a substitution of valine in place of glutamic acid in the 6th position of amino acid in the β-globin hemoglobin chain in the HBB gene in someone's DNA. The new hydrophobic valine causes deoxygenation and leads to polymerization of red blood cells, which is rigid blood cells from hemoglobin molecules clinging together.
What abnormal protein is produced that is needed for sickle cell Anemia mutation to happen?
Hemoglobin S
-Hemoglobin proteins are produced incorrectly with valine being subbed in place of glutamic acid, which results in an irregular protein, hemoglobin S, being produced instead.
What do the substitutions in intron 13 and 9 of the MCM6 do?
Acts as an enhancer
-The MCM6 switch gene acts as an enhancer and also has regulatory proteins bound to its mutated area. So, the substitutions in intron 13 and 9 causes the DNA strand to loop backwards, and the regulatory proteins come into contact with the Lactase gene.
What causes the MCM6 Gene to turn on the Lactase gene?
Contact with one another
-The contact of the MCM6 and Lactase Gene via regulatory proteins causes the lactase gene to always be on throughout your life and constantly produces the enzyme lactase. This is what causes your DNA and genetic code to allow consumption of lactose when you grow older.
Who is my biology teacher?
Mr. Brian Johnson (goated 🥹)
What is a treatment option for sickle cell Anemia?
Bone Marrow editing or Gene editing
-Transplanting bone marrow can help the body produce normal hemoglobin again to stop production of irregular hemoglobin proteins.
-There is also gene editing where we can replace the T in GTG (valine) with a C to produce a variant of our hemoglobin proteins called Hb-makassar. Hb-makassar is natural and non-pathogenic, which is why it is able to be a substitute to produce Hemoglobin normally again.
What happens after glutamic acid is replaced by valine in the β-globin hemoglobin chain?
Hemoglobin S protein produced, deoxygenation and polymerization of red blood cells occur.
-Hemoglobin S protein is an abnormal version of the normal Hemoglobin proteins we normally produce. Hemoglobin S is what causes the deoxygenation and polymerization of red blood cells, since it isn't able to transport oxygen correctly to the rest of your body.