Misc

Question 1

In the presence of one affected son and an otherwise negative family history, what is the prior risk that a mother is a carrier of an X-linked condition?

Answer 1

⅔

⅓ de novo

(based on statistics, not all conditions follow this rule (ex: hemophilia))

Question 2

Principles

Answer 2

sources or guides for values, rules, duties, and rights

Question 3

Values

Answer 3

priorities that are thought to be important or desirable

Question 4

Rules

Answer 4

specific guidelines of what should and should not be done

Question 5

Ideals

Answer 5

goals to which we aspire

Question 6

Duties

Answer 6

behaviours that are defined by our professional and social role

Question 7

Virtues

Answer 7

morally and socially desirable characteristics

Question 8

Rights

Answer 8

justified claims

Question 9

Carrier frequency: CF, Caucasian

Answer 9

1/25

Question 10

Carrier frequency: CF, AJ

Answer 10

1/25

Question 11

Carrier frequency: Tay Sachs

AJ

Answer 11

1/27

Question 12

Carrier frequency: Familial Dysautonomia

AJ

Answer 12

1/31

Question 13

Carrier frequency: Canavan Disease

AJ

Answer 13

1/55

Question 14

Carrier frequency: Gaucher Disease

AJ

Answer 14

1/18

Question 15

Carrier frequency: Sickle Cell

African American

Answer 15

1/12

Question 16

Carrier frequency: Beta thal

Mediterranean

Answer 16

1/28

Question 17

Carrier frequency: Alpha thal

Asian

Answer 17

1/20

Question 18

Carrier frequency: Tay Sachs

French Canadian and Cajun

Answer 18

1/30

Question 19

Carrier frequency: CF

French Canadian and Cajun

Answer 19

1/16

Question 20

Locus heterogenetiy

Answer 20

Mutations in different genes can cause the same disorder/phenotypic presentation
ex: autism, retinitis pigmentosa

Question 21

Allelic heterogenetity

Answer 21

different mutations/alleles on the same gene cause the same disorder

ex: CF

Question 22

phenotypic heterogeneity

Answer 22

different mutations in the same gene can cause different phenotypes

ex: FGFR2 associated conditions (apert, pfeiffer, crouzon)

Question 23

Pleiotropy

Answer 23

one gene mutation influences many unrelated phenotypic traits

ex: sickle cell, PKU

Question 24

variable expressivity

Answer 24

one condition can have many different phenotypes and phenotypes can vary widely in relatives with the same variant