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Mutations | Genetics | Biology | FuseSchool

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Getting Nosey about CF with Oli and Nush | Support

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Down syndrome (trisomy 21) - causes, symptoms, diagnosis, & pathology

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Hemophilia - causes, symptoms, diagnosis, treatment, pathology

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What are mutagenic substances? Name 3 Nour 

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What are mutagenic substances? Name 3 Nour 

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Are all mutations harmful? Beneficial? Neutral? Discuss and give an example of each type. Nihar & Omar R

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Are all mutations harmful? Beneficial? Neutral? Discuss and give an example of each type. Nihar & Omar R

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Describe how a mutation is passed on. Fatma & Ahmad

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Describe how a mutation is passed on. Fatma & Ahmad

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What is cystic fibrosis? Saeed

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How is it caused? Is it a dominant or recessive gene? Mayed

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What are the challenges and risks? Reem

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Is there any treatment? Nart

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What is Down Syndrome? Sakinah

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What are the signs and symptoms? Add photos David

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What are the challenges and risks? Lana and Faris

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Extension: work out the probability of a child suffering from the disease if both parents are heterozygous. Use a Punnet square to find out. Romir

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What factors increase the risk of having a baby with Down Syndrome?Shivenika

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What is Hemophilia? Amany

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Why is it more common in males than females? Omar

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What are the signs and symptoms? Liam

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What are the challenges and risks? Samah

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What are the challenges and risks? Samah

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How is it treated?Aparajita

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Name famous families in history who have the disease Aditya

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Name famous families in history who have the disease Aditya

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Why is it called a syndrome and not a disease? Siddh

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Xinyu & Erfan: prepare a presentation using the information

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Xinyu & Erfan: prepare a presentation using the information

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Lara: prepare a presentation

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Rayan: prepare a presentation

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Description of how mutations is passed on (Fatma & Ahmed)

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Description of how mutations is passed on (Fatma & Ahmed)

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Some mutations are genetic since they are passed down to an offspring from a parent carrying a mutation through the germ line, meaning through an egg or sperm cell carrying the mutation. There are moreover nonhereditary changes that happen in cells outside of the germ line, which are called physical mutations.

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A progressive, hereditary disorder that causes chronic lung infections and reduces the ability to breathe over time is cystic fibrosis.

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Easy bleeding, Hematomas (collection of blood outside of blood vessels (often in muscles), prolonged bleeding, Oozing after tooth extractions, Gastrointestinal bleeding, Hematuria (blood in urine), Severe Nosebleeds and hemarthrosis (bleeding in joint spaces)

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What factors increase the risk of having a baby with Down Syndrome? Shivenika

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What factors increase the risk of having a baby with Down Syndrome? Shivenika

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there are no environmental elements inclusive to toxins or cancer agents nor do any life choices (smoking ,drinking and etc)
the only recognized non-genetic factor is maternal age that is also not 100%

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hemophilia is a combination of the Greek words for "blood" and "love", a condition of attraction to blood.

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There are quite a few challenges that come with down syndrome, these challenges include:
- Higher risk for certain types of leukemia.
- 50% of the children born with down syndrome have heart defects, which may be fatal.
- They have an increased risk for diseases because of abnormalities in their immune system.
- Increases the risk of having Alzheimer's disease.
- It may also invoke dental problems, hearing and vision problems and etc.

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Why is it called a syndrome and not a disease? (Siddh)

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Why is it called a syndrome and not a disease? (Siddh)

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There is one reason why down syndrome is not an disease but instead it is a syndrome. Here is why: Down syndrome is a genetic condition and it is not an illness. . It is a genetic condition that occurs when there is an extra copy of a specific chromosome: chromosome 21. Down syndrome is not an disease because it describes the features resulting from this change. This therefore justifies that Down Syndrome is not a disease.

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Down syndrome is when an additional

chromosome is born to an infant.

People with Down syndrome, including Alzheimer's disease and

epilepsy, have a greater chance of certain diseases.

Low muscle tone, short stature, a flat nasal

bridge, and a protruding tongue are some features.

Down Syndrome arises due to a defect in cell division and affects the body because

the developmental changes and physical changes of Down syndrome are caused by this extra genetic material.

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The most efficient way of treating hemophilia is to replace the missing blood clotting factor so that the blood can then clot properly. This treatment is done by injecting treatment products like clotting factor concentrates into the person's vein.

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Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome

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A person with Down Syndrome will have intellectual or developmental problems which could be mild, moderate or severe.

Common symptoms are:

• Flattened face

• Small head

•Short neck

•  Protruding tongue

•Poor muscle tone

•Unusually shaped or small ears

•Upward slanting eyelids

•Short height

Short and small hand and feet

A person with Down Syndrome will have intellectual or developmental problems which could be mild, moderate or severe.

Common symptoms are:

• Flattened face

• Small head

•Short neck

•  Protruding tongue

•Poor muscle tone

•Unusually shaped or small ears

•Upward slanting eyelids

•Short height

Short and small hand and feet

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challenges that you could face with cystic fibrosis because  you need specialized care .and risks that also happen are affected organs and you will have a thick, sticky mucus that causes problems in lungs and digestive system.

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Extension: work out the probability of a child suffering from the disease if both parents are heterozygous. Use a Punnet square to find out. Romir 

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Extension: work out the probability of a child suffering from the disease if both parents are heterozygous. Use a Punnet square to find out. Romir 

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How is it caused? Is it a dominant or recessive gene? Romir

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How is it caused? Is it a dominant or recessive gene? Romir

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Are all mutations harmful? Beneficial? Neutral? Discuss and give an example of each type. Nihar & Omar R

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Are all mutations harmful? Beneficial? Neutral? Discuss and give an example of each type. Nihar & Omar R

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(Omar R)

Neutral mutations are changes in DNA sequence that are neither beneficial nor detrimental to the ability of an organism to survive and reproduce. In population genetics,mutations in which natural selection does not affect the spread of the mutation.

The majority of mutations have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations. Examples include silent point mutations. Examples include silent point mutations.

(Nihar)
No; only a small percentage of mutations cause genetic disorders—most have no impact on health or development. For example, some mutations alter a gene's DNA sequence but do not change the function of the protein made by the gene.

Some mutations have a positive effect on the organism in which they occur. They are called beneficial mutations. They lead to new versions of proteins that help organisms adapt to changes in their environment. Example : ACTN3 and the super-sprinter variant , hDEC2 and the super-sleeper mutation.

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Risk factors include Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome rises with age because older eggs have a greater risk of unsuitable chromosome division. A woman's risk of conceiving a child with Down syndrome increases after 35 years of age.

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Why is it more common in males than females?-Omar

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Why is it more common in males than females?-Omar

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Males are more commonly to get hemophilia because males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies so, if one gets affected there is another healthy copy. Therefore, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene.

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Hemophilia is caused by a mutation in a gene that gives instructions for for making the clotting factor proteins needed to form a blood clot. This mutation can prevent the clotting protein from working properly. These genes are found in the X chromosome.