Genetics Final Boss

Question 1

What is aminoacetisis

Answer 1

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.

Question 2

What is chronic villus sampling

Answer 2

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

Question 3

What is down syndrome

Answer 3

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

Symptoms

1. Distinctive Facial Features
   Individuals with Down syndrome often have a flat facial profile, upward slanting eyes, a small nose, and a protruding tongue. These features are characteristic and help in identifying the condition.
   
   2. Developmental Delays
      Down syndrome can cause delayed physical and mental development. Children may take longer to learn to walk, talk, or achieve milestones like sitting up independently.
   3. Low Muscle Tone (Hypotonia)
      Babies with Down syndrome commonly have reduced muscle tone, making them appear “floppy.” This can affect their ability to hold their head up and later impact their motor skills.

Down syndrome frequently affects the cardiovascular system, with up to 50% of individuals born with congenital heart defects. Common conditions include atrioventricular septal defects (holes in the heart), ventricular septal defects, These defects can cause abnormal blood flow, leading to complications like poor oxygenation, delayed growth surgery

The musculoskeletal system is significantly impacted in Down syndrome. Low muscle tone (hypotonia) is present from birth, leading to challenges such as delayed sitting, crawling, and walking. Individuals with Down syndrome often have shorter stature, smaller hands and feet, affecting motor skills
Neveoys system - intellectual problems communication and problem solving , smaller brain size , likely to develop neurological conditions. Autism and Alzheimer’s.

Question 4

What is Hodgkinson disease?

Answer 4

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

Question 5

What is sickle cell

Answer 5

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

Question 6

what is PKU and what is cystic fibrosis

Answer 6

PKU - is rescessive genetic metabolic disorder unable to breakdown amino acids called phenylalanine , which is found in protein rich food.
- high phenylalanine can cause intreputance to brain development function, learning diffificulities
Skin - ezcma and rashes due to high levels and musty odor
endocrine- does not directly affect the thyriod but it does affect metabolic rates and lowe protein diet can affect body

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).

Question 7

Punnet square of this cheat sheet
If you don’t

Answer 7

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
Hugtigtons - bb

Question 8

What are genes

Answer 8

A gene is a section of DNA which controls the development of specific characteristics . Each chromosome contains many genes

Question 9

How much genes and chromosomes do we have

Answer 9

46 chromosomes (23) each pair and 30,000 genes

Question 10

Similar apperenancea in humans are called ?

Answer 10

Genetic variation ( characteristics from both parents)23 mum and 23dad

Question 11

Chromosomal abnormalities

Answer 11

In numerical abnormalities- there is either missing chromosomes or additional chromosomes

In structural abnormalities part of the chromosome could be missing inverted ( upside down ) or translocated ( transferred to another chromosome)

Question 12

When does chromosomes abnormalities usually occur
What condition causes chromosomes abnormalities

Answer 12

Likely to occur when error in cell division and maternal age
Down syndrome

Question 13

What is the principal of Mendelian

Answer 13

the principal of Mendelian describes how some traits ( appearances) result from the inheritance of a single gene copy ( allele) from female and alle from the male. The probability of inheriting such conditions is predictable

Question 14

What is a alle
What is a trait
Dominant allele
Recessive alle

Answer 14

• alternative version of gene giving different traits
• a genetically determined characteristics
• if present the trait is always expressed

Two copies of this alle must be present for expression of the trait

Question 15

What are homozygous
Hertrozygous
Genotype:
Phenotype:

Answer 15

Inheriting Two identical copies of the same allele for a gene. one from female and one from male ( two dominant or two recessive )

Inheriting two different allele for a gene , one reccsive and one dominant

Genotype: genetic makeup.

Phenotype: resulting appearance from the genetic makeup.