25 - Intro to Genetic Pathology

Question 1

Mosaicism

Answer 1

Subpopulation of cells with different genetic information

Question 2

Autosomal dominant

Answer 2

• Multiple affected generations
• Both genders affected
• Male to male transmission

Question 3

Autosomal recessive

Answer 3

• No transmission across generations
• Both genders affected

Question 4

X - linked dominant

Answer 4

• Multiple affected generations
• Both genders affected
• No male to male transmission

Question 5

X - linked recessive

Answer 5

• Only males affected
• Affected males linked through carrier females
• No male to male tranmission

Question 6

Loss of function variant

Answer 6

• No mRNA/protein or non-functional mRNA/protein
• Usually recessive

Question 7

Gain of function variant

Answer 7

• Extra mRNA/protein
• Wrong timing/location of expression
• New properties
• Usually dominant

Question 8

Factors determining the genetic testing approach

Answer 8

• Genetic test context
• Disease mechanism of the specific disorder (if know)
• Expected abnormality (germline vs somatic)
• Access to appropriate sample type

Question 9

Circumstances for duplicate sampling/genetic testing

Answer 9

• High prior risk of inheriting a genetic variant
• Potential harm/irreversible decisions based on genetic test result
• Avoidance of pre-analytical errors

Question 10

Samples for cytogenetics

Answer 10

Viable and dividing cells

Question 11

Samples for molecular genetics

Answer 11

Any source of DNA, RNA, metabolites