Genetic Diseases Flashcards
What is cystic fibrosis?
A hereditary disorder and it affects the exocrine glands.
Causes the production of thick mucus and leads to blockage on the pancreatic ducts.
- Caused by a defective protein in the cell membrane.
- No cure.
What is Tays- Sachs disease?
- Causes the nerves from stop working properly.
- Caused by a recessive trait, rr.
- An important enzyme is missing and it causes lipids to break down in the central nervous system.
What are some symptoms of Tays- Sachs disease?
- Seizures
-Weakness - Slow to reach milestones.
What is sickle cell anaemia?
- A disease which is inherited and it affects the red blood cells.
- Red blood cells are crescent shape.
What are some symptoms of sickle cell anemia?
- Extreme pain.
- Increased risk of serious infections.
- Shortness of breath and tiredness.
How is Sickle cell anaemia inherited?
From a single point mutation in the sixth codon of the B-globin gene.
What is Glucose-6-phosphate dehydrogenase defienceny?
- Causes red blood cells to break down prematurely.
- Red blood cells are destroyed faster than the body can replace them.
- Many people can live with this disorder and not even know about it and show no symptoms.
How is G6PD caused?
- From mutations of the G6PD gene.
- The gene is crucial to help the body to fight against reactive oxygen species.
- Compounds are produced that prevent ROS from veiling up to toxic level when G6PD occur in chemical reactions.
Which disease are people likely not to have by having G6PD?
Malaria
Where is the gene located which causes the inheritance of G6PD?
X- linked recessive patter on the X chromosome.
What is Phenylketonuria (PKU) disorder?
A disorder which is inherited and it is where phenylalanine is unable to break down and it causes it to build up in the blood and brain and results in brain damage.
How is phenylketonuria (PKU) caused?
An enzyme is missing which makes phenylalanine unable to be converted into tyrosine and this causes the build up in the blood and brain.
What are some symptoms of PKU?
Fairer skin
Sickness
Eczema
Epilepsy
Which enzyme is required to break down phenylalanine into tyrosine?
Phenylanine tyrosine.
What is an allele?
Two or more alternative forms of a gene and they are found on the same location of a chromosome.
What is the location of an allele on a chromosome known as?
A locus
What is multiple locations of an allele on a chromosome known as?
Loci
What does homozygous mean?
An individual has two alleles that are the same.
What does heterozygous mean?
An individual having two alleles that are different?
What is a homozygous recessive individual?
Where both alleles are the same and are recessive.
Example: aa
What is a homozygous dominant individual?
Where an individual have two alleles that are the same and they are dominant.
Example: AA
What is a heterozygous dominant individual?
An individual where the two alleles are different but the trait is dominant.
Example: Aa
What is Huntington’s disease?
A brain disorder that causes uncontrolled movements, emotional problems and loss of thinking.
Caused by a faulty gene.
What is consanguinity?
Occurs when parents are closely related.
