Module 2 Genetics Flashcards
1
Q
Clinical Genetic Purpose
A
- Genetic disorder care
- Prenatal diagnosis
- Cancer genetics
- Newborn screening
- Metabolic genetics
- Population screening
2
Q
Load of Genetic Disease
A
- Miscarriages
- Congenital anomaly
- Chromosome anomaly
- Pediatric admissions
3
Q
Genotype
A
- Genetic makeup
4
Q
Phenotype
A
- Physical manifestation
- Inherited trait/disease
5
Q
New Dominant
A
- People with condition in each generation
- Males/females affected
- Forms of transmission
6
Q
Polycystic Kidney Disease
A
- Bilateral renal cysts
- Liver cysts
- Intracranial aneurysms risk
7
Q
Autosomal Recessive
A
- Equal males/females
- Sid ship in 1 generation
- Increase consanguinity
8
Q
Cystic Fibrosis
A
- European population prevalence
- CFTR gene mutation
9
Q
X-Linked Inheritance
A
- Mostly male affected
- Female carrier to son (possible)
- Male carrier to son (not possible)
- Carrier females mildly affected
10
Q
Males Affected by X-Linked
A
- 1 X chromosome
- Must express all x-linked genes
- Hemizygous
10
Q
Females Affected by X-Linked
A
- XX pairing
- Gene prevents symptoms
11
Q
Duchenne Muscular Dystrophy
A
- Affect males in 20’s
- Cannot reproduce
- Mutation inherited from mother/de novo
- Increase in spontaneous mutation (1/3)
12
Q
Mitochondrial DNA Disorders
A
- Inherited from mother in egg
- Mitochondria have own DNA
13
Q
Mitochondrial Multisystemic Disorders
A
- Diabetes
- Hearing loss
- Limited eye movement
- Cardiomyopathy
- Fatigue & low tone
- Cognitive dysfunction
- Feeding difficulties
- Constipation
14
Q
G-Banded Chromosomes
A
- Euploid
- Karyotype
