Medical Interventions Unit 2

Single Gene Genetic Disorder

caused by genetic mutations in the DNA sequence of one gene

Autosomal Dominant (SGD)

Dominant gene on one of the 44 non-sex characteristics

Autosomal Recessive (SGD)

recessive gene on one of the 44 non-sex characteristics

Sex-Linked (SGD)

gene usually carried on the x chromosome

Genotype

Genetic Code

Phenotype

Physical Trait

Mitochondiral Disorder

Caused by a mutation in the nonchromasomal DNA of mitochondria. Automatically inherited if the mom has it. 

Multifactorial Disorders

Caused by environmental factors and mutation in mutation of multiple genes

Chromasomal Disorder

Problems happen when there are missing or extra copies. 44 autosomes, 2 sex cells, 46 chromosomes in general

Karotypes

Paired chromosomes. Important to diagnose chromosomal disoders. XX Female, XY Male

PGD Process

Egg +Sperm → Embryo → Remove 1-2 cells for testing → Test DNA or chromosomes → Test Results → Either genetic disorder detected or not

Single Nucleotide Polymorphism (SNP)

Single base changes in amino acid and change in protein shape.

Haplotype

Set of DNA variations inherited together

PTC Strong Taster

TT- Two cuts at 177 and 44

PTC Weak-Taster

Tt- Three cuts at 221, 177, and 44

PTC Non-Taster

tt- no cuts, full 221 bar length

Tasting PTC

Hae III enzyme cuts whenever there is a code found in the sequence. This then determines if you are a toaster or non-taster.

Ultrasound

Medical imaging technique that uses high-frequency sound waves to create images of internal organs and structures

Amniocentesis

Take a small sample of amniotic fluid for testing of genetic disorder of a fetus

Chorionic Villus Sampling (CVS)

Take a small sample of the placenta to test for genetic abnormalities

Plasmid Vector

Carries gene of any size, carries DNA, doesn’t cause immune respone, P

Liposome Vector

Carries gene of any size, carries DNA, doesn’t cause immune response, L

Herpes Virus Vector

Carries gene up to 20,000 BP

Adeno-Associated Virus Vector

Carries gene up to 5,000 BP, carries DNA, enters dividing and non dividing cells, doesn’t cause immune response, makes effects last longer, efficient at entering cells

Adenovirus Vector

Carries gene up to 7,500 BP, carries DNA, efficient at entering cells, enters dividing and non dividing cells

Retrovirus Vector

Carries gene up to 8,000 BP, carries RNA, makes effects last longer

Lentivirus

Carries gene up to 8,500 BP, carries RNA, enters dividing and non dividing cells, efficient at entering cells, effects last longer, doesn’t cause immune response

In-Vitro Ferilization (IVF)

Mature eggs taken from ovaries and fertilized using sperm in a lab, CRISPR works alongside IVF to edit genes while in the lab. Most twins and triplets come as a result of IVF

Sperm Sorting

Sorts through seminal fluid and separates X and Y chromosomes, allows for biological sex selection

Biological Sex Selection

The practice of choosing the sex (male or female) of a child before conception

Pre-Implantation Genetic Technology

Picking the best gene availability option