Genetics Final Boss Flashcards
What is aminoacetisis
A small sample of Ionic fluid taken from the room using a small needle under ultrasound control. This fluid contains foetal cells. Which can be tested for any genetic conditions. It is usually done around 15 to 18 weeks.
What is chronic villus sampling
A small sample of cells taken out of the placenta of these cells contain foetal cells which are tested for any genetic condition usually done around 11 to 14 weeks
What is down syndrome
This is where three pairs of chromosome 21 present(one extra present ) this mainly happens for adults that are for the age of 35 or young mothers under the age of 20
This can affect the central nervous system brain as crimson 21 can affect brain development as the size and volume of the brain might be decreased leading to decline memory loss, disabilities and changes
Moscow skeletal system as hypotonia may cure as children with dance might find difficult when moving balance and fine and gross motor skills hard
Children’s with down syndrome cardiovascular health may be affected as 50% of children that are born with down syndrome are more likely to have CHD as well they may have atrioventricular septal defect this is where there’s a whole in between chambers of heart resulting in poor circulation and may require heart surgery
What is Hodgkinson disease?
Hodgkinson disease disease, is a dominant gene which happens because of the mutation of the HTT which damage nerve cells in brain?
Central nervous
Hodkinson disease primarily affects the central nervous system, especially the Basel ganglia and cortex As it promotes cognitive decline such as memory loss and communication
Mulskeplrol System
Muscle weakness and rigidity as muscle control declines overtime difficulties in walking doing five more skills coordination and balance
Digestive system to monitor weight loss choking
What is sickle cell
sickle cell- is a partially dominant genetic disorder inherited blood disorder caused by gene mutation (HBB) mosted prominat on melinated skin afro carribean, and middle east
circultary system-causes blockage in blood vessels, leading to reduced blood flow and oxygen delievery (swelling in hands and feet, muscle pain immune systems- the spleen a critical organ for fighting infections is often damaged due to blockages - risk of infection menagentis, rish of fever /ilnesses
reproductive system- blood flow issues can effect organs, puberty
What is cystic fibrosis
reproductive system- blood flow issues can effect organs, puberty
cystic fibrosis - a recessive genetic condition resulting from a mutation in the gene CTFR., if two inherited genes are effected digestive and lungs become thick with mucous if indivudals have one normal dominant and one recessive affected gene they arre carriers but not affected
Respiratory System
Impact: Thick mucus clogs the airways, leading to recurrent infections, inflammation, and respiratory damage.
Symptoms
Frequent lung infections (e.g., pneumonia, bronchitis)
Shortness of breath or wheezing
Digestive System
Impact: The thick mucus blocks pancreatic ducts, preventing the release of digestive enzymes needed to break down food.
Symptoms:
Poor digestion and absorption of nutrients (malabsorption) bloating
Endocrine System
Impact: Damage to the pancreas can impair insulin production, leading to Cystic Fibrosis-Related Diabetes (CFRD).
What is mendelians principle
The principles of Mendelian inheritance describe how some traits (appearances) result from the inheritance of a single gene copy (allele) from the female and an allele from the male . The probabilty of menting such traits is predictable.
Punnet square of this cheat sheet
If you don’t
Down syndrome - genetic mutation
If have the disorder
Cystic fibrosis- bb
Sickle cell - bb
PKU-bb
Huntington’s disease BB
If you are a carrier / trait
Cystic fibrosis- Bb
Sickle cell-Bb
PKU- Bb
Huntington’s disease Bb
If doesn’t have the disorder
Cystic fibrosis - BB
Sickle cell -BB
PKU -BB
Homozygous and heterozygous
Inheriting two identical copies of allie two dominant or two recessive one from female on from male
Heterozygous - different alie , one ressevice and one dominant
