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CYTOGENETICS > TOPIC 1: Genetic Disorders (LECTURE) > Flashcards

TOPIC 1: Genetic Disorders (LECTURE) Flashcards

1
Q

PATHOPHYSIOLOGY
From greek words
“Pathos”-
“Physis”-
“Logos”-

A

“Pathos”- suffering
“Physis”- origin/nature
“Logos”- study

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2
Q

-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.

A

GENETIC DISORDERS

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3
Q

3 TYPES OF GENETIC DISORDERS

A

-Chromosomal
-Complex (multifactorial)
-Single-gene (monogenic)

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4
Q

-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.

A

CHROMOSOMAL GENETIC DISORDER

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5
Q

EXAMPLES OF CHROMOSOMAL GENETIC DISORDERS:
A person is born with an extra copy of chromosome 21

A

DOWN SYNDROME (TRISOMY 21)

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6
Q

EXAMPLES OF CHROMOSOMAL GENETIC DISORDERS:
People AMAB (assigned male at birth) have additional X chromosome.
Born as male but has female features

A

KLINEFELTER SYNDROME

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7
Q

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

A

TURNER SYNDROME

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8
Q

Who discovered Turner Syndrome?

A

Henry H. Turner

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9
Q

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

A

COMPLEX (MULTIFACTORIAL)

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10
Q

EXAMPLES OF COMPLEX GENETIC DISORDER: A neurological and developmental disorder that affects how people interact with others, communicate, learn, and behave.

A

AUTISM SPECTRUM DISORDER

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11
Q

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

A

DIABETES

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12
Q

TYPE OF DIABETES: -Juvenile onset diabetes
-Insulin dependent
-Patients born with malfunction pancreas

A

TYPE 1 DIABETES MELLITUS

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13
Q

TYPE OF DIABETES: -Adult-onset diabetes
-Insulin independent

A

TYPE 2 DIABETES MELLITUS

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14
Q

EXTRA INFO:
Hba1c
Hemoglycosylated hgb 1c
Use lavender because you are examining RBC

A

Gold standard Test

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15
Q

Lacks vasopressin (anti-diuretic hormone)
Msgsigeg ihi ang patient

A

Diabetes insipidus

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16
Q

Lavender Top Tube (EDTA)
K2-
K3-

A

K2- versene
K3- sequestrene

17
Q

TYPE OF GENETIC DISORDER: Occurs from a single gene mutation

A

SINGLE-GENE (MONOGENIC)

18
Q

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.

A

CYSTIC FIBROSIS

19
Q

(CFTR) gene MEANS

A

cystic fibrosis transmembrane conductance regulator (CFTR) gene

20
Q

EXAMPLES OF SINGLE-GENE GENETIC DISORDER:
-One of the most severe forms of inherited muscular dystrophies.
-Progressive muscle degeneration and weakness

A

DUCHENNE MUSCULAR DYSTROPHY (DMD)

21
Q

largest gene in the body; 2.4 million of base pair; 16 hours to transcribe

A

DMD gene

22
Q

Mutated DMD gene, a protein that transfers the force of muscle contraction from the inside of the muscle cell outward to the cell membrane

A

Dystrophin

23
Q

3 types of structure abberation

A

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.

24
Q

do not include centromere

A

Paracentric inversion

25
Q

includes centromere

A

Pericentric inversion

CYTOGENETICS (8 decks)

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