TOPIC 1: Genetic Disorders (LECTURE) Flashcards
PATHOPHYSIOLOGY
From greek words
“Pathos”-
“Physis”-
“Logos”-
“Pathos”- suffering
“Physis”- origin/nature
“Logos”- study
-Genes that are mutated
-Occur when a mutation affects your genes; and/ or
-When you have the wrong amount of genetic material
-Genetic material (DNA) is found in the chromosome.
GENETIC DISORDERS
3 TYPES OF GENETIC DISORDERS
-Chromosomal
-Complex (multifactorial)
-Single-gene (monogenic)
-Genetic diseases that have problems in the chromosome
-It affects the structure that holds your genes (chromosomes) or DNA within each cell.
-With these conditions, people are missing or have duplicated chromosome material.
CHROMOSOMAL GENETIC DISORDER
EXAMPLES OF CHROMOSOMAL GENETIC DISORDERS:
A person is born with an extra copy of chromosome 21
DOWN SYNDROME (TRISOMY 21)
EXAMPLES OF CHROMOSOMAL GENETIC DISORDERS:
People AMAB (assigned male at birth) have additional X chromosome.
Born as male but has female features
KLINEFELTER SYNDROME
EXAMPLES OF CHROMOSOMAL GENETIC DISORDERS:
-Chromosomal disorder affecting females
-Only affects AFAB ( assigned female at birth)
-One of two of the x chromosomes is missing, either partially or completely.
-One x is missing or putol
-Completely absent or partially absent
-No menstruation because their reproductive system is not fully developed.
-Cannot give birth
-Discovered by Henry H. Turner
TURNER SYNDROME
Who discovered Turner Syndrome?
Henry H. Turner
TYPE OF GENETIC DISORDER: Combination of the mutated gene and other factors
Stem from a combination of gene mutations and other factors:
Chemical exposure
Diet
Certain medications
Tobacco or alcohol use
COMPLEX (MULTIFACTORIAL)
EXAMPLES OF COMPLEX GENETIC DISORDER: A neurological and developmental disorder that affects how people interact with others, communicate, learn, and behave.
AUTISM SPECTRUM DISORDER
EXAMPLES OF COMPLEX GENETIC DISORDER: Blood sugar is too high
Occurs either when the pancreas does not produce enough insulin or when the body cannot effectively use the insulin it produces
DIABETES
TYPE OF DIABETES: -Juvenile onset diabetes
-Insulin dependent
-Patients born with malfunction pancreas
TYPE 1 DIABETES MELLITUS
TYPE OF DIABETES: -Adult-onset diabetes
-Insulin independent
TYPE 2 DIABETES MELLITUS
EXTRA INFO:
Hba1c
Hemoglycosylated hgb 1c
Use lavender because you are examining RBC
Gold standard Test
Lacks vasopressin (anti-diuretic hormone)
Msgsigeg ihi ang patient
Diabetes insipidus
Lavender Top Tube (EDTA)
K2-
K3-
K2- versene
K3- sequestrene
TYPE OF GENETIC DISORDER: Occurs from a single gene mutation
SINGLE-GENE (MONOGENIC)
EXAMPLES OF SINGLE-GENE GENETIC DISORDER:
-Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene
-Protein helps to maintain the balance of salt and water on many surfaces in the body
-CFTR- maintains salt and water
-No cure
-Mucus
-Where sodium goes, water follows
-An inherited disorder that causes severe damage to the lungs, digestive system, and other organs in the body.
-Sticky, thick mucus builds up in your body.
-Prone to cross-contamination
-Not allowed to meet patients with cystic fibrosis
-Live up to 40 years old
-Too much phlegm in the lungs can travel to your pancreas, digestive tract, etc.
CYSTIC FIBROSIS
(CFTR) gene MEANS
cystic fibrosis transmembrane conductance regulator (CFTR) gene
EXAMPLES OF SINGLE-GENE GENETIC DISORDER:
-One of the most severe forms of inherited muscular dystrophies.
-Progressive muscle degeneration and weakness
DUCHENNE MUSCULAR DYSTROPHY (DMD)
largest gene in the body; 2.4 million of base pair; 16 hours to transcribe
DMD gene
Mutated DMD gene, a protein that transfers the force of muscle contraction from the inside of the muscle cell outward to the cell membrane
Dystrophin
3 types of structure abberation
3 types:
Detection or deficiency (turner’s syndrome)
Duplication (Trisomy 21)
Inversion
Occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation.
do not include centromere
Paracentric inversion
includes centromere
Pericentric inversion
