Misc Flashcards
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?
⅔
⅓ de novo
(based on statistics, not all conditions follow this rule (ex: hemophilia))
Principles
sources or guides for values, rules, duties, and rights
Values
priorities that are thought to be important or desirable
Rules
specific guidelines of what should and should not be done
Ideals
goals to which we aspire
Duties
behaviours that are defined by our professional and social role
Virtues
morally and socially desirable characteristics
Rights
justified claims
Carrier frequency: CF, Caucasian
1/25
Carrier frequency: CF, AJ
1/25
Carrier frequency: Tay Sachs
AJ
1/27
Carrier frequency: Familial Dysautonomia
AJ
1/31
Carrier frequency: Canavan Disease
AJ
1/55
Carrier frequency: Gaucher Disease
AJ
1/18
Carrier frequency: Sickle Cell
African American
1/12
Carrier frequency: Beta thal
Mediterranean
1/28
Carrier frequency: Alpha thal
Asian
1/20
Carrier frequency: Tay Sachs
French Canadian and Cajun
1/30
Carrier frequency: CF
French Canadian and Cajun
1/16
Locus heterogenetiy
Mutations in different genes can cause the same disorder/phenotypic presentation
ex: autism, retinitis pigmentosa
Allelic heterogenetity
different mutations/alleles on the same gene cause the same disorder
ex: CF
phenotypic heterogeneity
different mutations in the same gene can cause different phenotypes
ex: FGFR2 associated conditions (apert, pfeiffer, crouzon)
Pleiotropy
one gene mutation influences many unrelated phenotypic traits
ex: sickle cell, PKU
variable expressivity
one condition can have many different phenotypes and phenotypes can vary widely in relatives with the same variant
