Autosomal Recessive
Autosomal Dominant
Foundations of Genetics
Genetics Ethical Considerations
Chromosomal Disorders & Mutation Detection
100

What is the gene and chromosome number for Cystic Fibrosis?

CFTR gene chromosome 7

100
If your patient has a hatchet face and cataracts, what genes cause their disease and what are their chromosome numbers?

DMPK gene 19q

ZNF9 3q

100

The term for the phenomenon when not all individuals with a specific gene variant express the associated trait.

Penetrance

100

what are the 3 types of cloning techniques

Recombinant DNA therapy (gene cloning)

Reproductive 

Therapeutic cloning (embryonic cloning)

100

What disease is trisomy 21 and write out the karyotype for female.

Down Syndrome

47 XX + 21

200

Name the 5 hereditary thrombophilias

Factor 5 Leiden

Prothrombin

Antithrombin

Protein C

Protein S

200

What are the genes and respective chromosomes for Osteogenesis Imperfecta?

COL1A1 17 & COL1A2 7

200

The term describing how maternal and paternal alleles can be expressed unequally, depending on the parent of origin.

Genomic imprinting

200

Questions for recognizing a possible genetic role.


FamilyGENES

positive family history

groups of anomalies

early or extreme presentations of common disease

neurodevelopmental or neurodegenerative conditions

exceptional or unusual pathology

surprising lab values

200

what does the nonsense mutation change the codon to do?

STOP

300
What is the recurrence risk for autosomal recessive diseases?

25%

300

If you ordered an MRI for a patient and it came back showing caudate atrophy, which disease do they have and is it autosomal recessive or dominant?

Huntington's disease, dominant

300

What are the stop and start codes?

Start: AUG

Stop: UAA

300
what are the 5 recombinant DNA and genetically engineered gene products?

insulin

interferon

human growth hormone

clotting factor 8

tissue plasminogen activator

300
what type of disorder is usually due to loss of function

recessive

400

What is the chromosome for sickle cell?

11p

400

Lisch nodules & Optic gliomas are examples of what disease?

Neurofibromatosis

400

What two diseases are examples of genomic imprinting?

Prader Willi and Angelman syndrome

400

what type of cloning was dolly an example of?

reproductive cloning

400

what are the 3 mutation repair mechanisms

damage reversal

damage removal

damage tolerance

500

what are the 2 lysosomal storage disorders & their genes?

Tay Sachs - HEXA

Niemann Pickman - SMPD1 and NPC1 & NPC2

500

Define xanthomas and what disease is it associated with?

Excessive cholesterol deposits causing visible or palpable bumps

Familial hypercholesterolemia

500

The most numerous type of polymorphism in humans

(SNPs) Single Nucleotide Polymorphisms

500
when should amniocentesis be performed?

15-17 weeks

500
What does WAGR stand for?

wilms tumor

anridia

genitourinary abnormalities

mental retardation

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