causes and effects

Question 1

what are genetic diseases

Answer 1

diseases caused by gene or chromosomal mutations

- they may result when cell division by mitosis or meiosis occurs abnormally or due to exposure by a mutagen

Question 2

single gene abnormalities

• cause
• effect

Question 2

single gene abnormalities

• cause
• effect

Answer 2

• exposure to mutagens; inheriting mutated genes from parents; abnormal recessive or dominant alleles
• if the particular gene that codes for a specific protein is abnormal, then that protein may not be produced correctly. resulting in genetic disease

Question 3

examples of single gene abnormalities

Answer 3

cystic fibrosis
albinism
huntingtons disease
thalassaemia
sickle cell anemia

Question 4

chromosomal abnormalities

• cause
• effect

Answer 4

• Incorrect number of chromosomes; change to the chromosome itself; nondisjunction of chromosomes during cell division
• Trisomy: zygote has one more chromosome than the normal diploid number
• Monosomy: zygote has one less chromosome than the normal diploid number

Question 5

examples of chromosomal abnormalities

Answer 5

down syndrome
edwards syndrome
turner syndrome

Question 6

causes of cystic fibrosis

effect

Answer 6

A Mutation on the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. CTFR gene is recessive so a person has to inherit it from both parents to develop the disease.

Faulty gene changes protein that regulate the movement of NaCl in and out of cells -> thick mucus is productss which causes breathing issues, and issues with digestion and absorption of nutrients

Question 7

symptoms of cystic fibrosis

Answer 7

• Severe recurrent chest infections as thick fluids block vessels in lungs
  
  • Blockages in ducts prevents pancreas from delivering important digestive enzymes, which may lead to diabetes
  • Malfunctioning of sweat glands causes excessive salt in perspiration
  • Malabsorption of nutrients

Question 8

causes of down syndrome

symptoms

Answer 8

Result of a chromosomal mutation (trisomy 21) where patients have 3 copies of chromosome 21 in each cell. Which occurs during nondisjunction of a chromosome as the pair fails to sepearate into 2 separate daughter cells during meiosis and creates a gamete with 2 copies of the chromosomes. After fertilisation, the zygote has 3 copies.

- Protruding tongue
- Short stature
- Suscpetibility to infection
- Small flattened skull
- Looseness in joints
- Sexual underdevelopment and infertility

Question 9

what are environmental diseases

Answer 9

Environmental diseases are caused by interactions with the environment and exposure to physical factors such as radiation or harmful chemicals such as toxic metals

Question 10

environmental exposure can be caused by …. factors

examples of diseases from each factor

Answer 10

lifestyle: CVD, alcohol , smoking related diseases like lung cancer

physical factors in the environment: skin cancer

exposure to chemicals in the enviro: lead poisoning, Mesothelioma, asbestosis

Question 11

CORONARY HEART DISEASE

causes

symptoms

Answer 11

Hardening of the arteries in which a build-up of fatty deposits on the inner walls of the arteries hinder blood flow and increase blood pressure.

Caused by

- Excessive alcohol consumption
- Expsure to high stress levels
- Smoking
- Unbalances diet
- High salt
- High saturated fats

symptoms

- Plaque deposited on artery walls-> reducing elasticity and blood flow
- Build up of plaque and fat can cause a blockage in the blood vessel
- If blockage continues in the coronary arteries -> cardiac arrest