Genetic Jigsaw by Tarun Siddharth Sriram https://padlet.com/tsriram2/fz7gv0mfjz2sblq9 Five Genetic Conditions en-us 2022-03-11 12:45:49 UTC 2024-05-26 20:00:52 UTC hello@padlet.com https://padlet.net/icons/png/1f9ec.png Hemophilia - Reuben Sequeira https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2090844797
https://www.cdc.gov/ncbddd/hemophilia/facts.html

https://www.cdc.gov/ncbddd/hemophilia/course Hemophilia_Patterns_v3.pdf
https://www.cdc.gov/ncbddd/hemophilia/course/Hemophilia_Patterns_v3.pdf

https://www.merckmanuals.com/home/quick-facts-blood-disorders/bleeding-due-to-clotting-disorders/hemophilia

Phenotype:
Common symptoms of Hemophilia are bleeding into the joints, bleeding in the skin, bleeding in the mouth or gums, bleeding after a circumcision, bleeding after shots, blood in the urine, frequent nose bleeds. 

Bleeding in the joints can cause swelling and pain in the joints. Bleeding in the mouth or gums become hard to stop after losing a tooth.

How is it passed down:
Hemophilia is a sex linked disorder.

It is carried on the X chromosome, affected males can’t give this disorder to their sons, but daughters can be carriers.

Fun fact:
The two types of hemophilia and one is more severe than the other. Type a and type b, b is less severe than a



]]> 2022-03-11 17:35:29 UTC https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2090844797 ppuranik https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099197394 2022-03-17 02:41:02 UTC https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099197394 Hemophilia rsequeir https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099210960 The genotype for this disease in males are XhY, in females that are carriers its XhXH, the genotype in affected females are XhXh. Hemophilia is a recessive disease that affects the F8 gene. The F8 gene provides instructions to make the protein coagulation factor which allows for your blood to clot properly. Common symptoms of hemophilia are bleeding into the ]]> 2022-03-17 02:49:55 UTC https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099210960 Cystic Fibrosis (CF) ppuranik https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099306152 Pranav Puranik

Cystic Fibrosis genotype is homozygous for the allele ΔF508 (cc)
  1. Recessive
  2. The CFTR gene is affected which is in charge of the inflow and outflow of sodium and chloride in cell membranes of lungs and other organs.

The phenotype for CF is that mucus clogs the organs including the lungs, pancreas, and intestines.
  1. These clogged organs cause many negative effects such as malnutrition and poor growth along with chronic lung disease and other respiratory issues.
  2. The symptoms of these diseases stem from the same respiratory and gastric issues such as frequent coughing from infections.

CF is passed from generation to generation when a parent either has CF themself or carries it as a recessive allele.
  1. CF is not sex linked.
  2. The parent can either have CF which would make their genotype homozygous ΔF508 (cc) or they can carry it in which case their genotype would be heterozygous ΔF508 or (Cc).

Interesting Fact:
  • The bacteria produced in the mucus of Cystic Fibrosis patients is not at all contagious to healthy people but is very contagious to other CF patients. This is why they are advised to stay more than 6 feet away from each other.

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]]> 2022-03-17 04:04:53 UTC https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099306152 Albinism - Tarun Sriram tsriram2 https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099360927 Genotype:
The genotype for people with this condition is aa.
1) It is a recessive trait so you would need to inherit 2 copies of a in order to get Albinism.
2) The TYR gene is affected or tyrosinase.

Phenotype:
The phenotype for people with this condition is lacking the production of the pigment melanin in their body, leading to unusual hair, eye, and skin color compared to normal people.
1) It is expressed by a lack of or decrease in pigment in areas like the skin or hair. Also, since Albinism also affects the eye, the lack of the pigment melanin in the eye can alter the efficiency of the vision that person has.
2) Some symptoms are darkened hair color at a young adulthood, pale eyebrows and eyelashes, and translucent eyes. Also, people with Albinism are very sensitive to sunlight and are very open to getting sunburn or damaging their skin due to the lack of melanin.

Inheritance:
This condition is passed from one generation to the next by the offspring inheriting 2 copies of the recessive allele. It is passed down from parent to offspring by inherited genes and alleles.
1) Ocular albinism is sex-linked, and oculocutaneous albinism is almost always an autosomal recessive disorder.
2) The genotype parents would need to have to pass on the trait is at least 1 ‘a’, so then the child would have 2 copies of the recessive allele for albinism.

Interesting Fact:
Albinism occurs in 1 in 20,000 people each year in the US.

Sources:
- https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184
- https://my.clevelandclinic.org/health/diseases/21747-albinism



]]> 2022-03-17 04:55:54 UTC https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099360927 Huntington Disease - Krish Shah kshah216 https://padlet.com/tsriram2/fz7gv0mfjz2sblq9/wish/2099375077 Most individuals with Huntington's disease (HD) are heterozygous, having one wtHTT (wild-type) allele and one mHTT (expanded mutant huntingtin gene) allele.
  1. Dominant
  2. Huntington disease is a brain disorder which is caused by defects on chromosome 4. A chromosome carries a human's genetic code so this can cause many problems.
Huntington disease is a dominant neurodegenerative disorder. It is often characterized by a progressive course of the combination motor, cognitive, and psychiatric manifestation.
  1. A distinct phenotype that one could notice can be characterized by chorea, incoordination, dystonia, cognitive decline, and behavioral difficulties.
  2. Some symptoms: Involuntary jerking or writhing movements (chorea), Muscle problems, such as rigidity or muscle contracture (dystonia), Slow or abnormal eye movements, Impaired gait, posture and balance, Difficulty with speech or swallowing
Huntington disease is hereditary and is passed down from generation to generation. A person only needs one defective gene because it is an autosomal dominant disorder.
  1. It is not sex-linked
  2. Only one parent needs to have the disease for it to pass on. This means only one parent needs a mutation in the HTT gene for it to be passed on to a child because it is an autosomal dominant disorder.
Fun fact: You can live with a mutated gene for years at a time without any symptoms whatsoever, but will eventually start to feel it affects and develop symptoms

Sites Used:
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