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Flashcards in Lecture summary Qs Deck (12)
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1
Q

What are polygenic traits

A

Traits that are affected by more than 1 gene

2
Q

What are quantitative MFIs

A

Ones that can be measured on a scale

3
Q

What are threshold MFIs

A

Ones that are (threshold passed) all or nothing

4
Q

How can you determine the recurrence risk of MFI traits

A

square rot of the incidence of the trait

5
Q

What is the overall recurrence risk of any given trait

A

4%

6
Q

What family hx suggests gonadal mosaicism

A

Negative family hx for disease but 2+ offspring with it

7
Q

How do gonadal mosaicisms come about

A

de novo mutations

8
Q

What is genomic imprinting and give example(s) of diseases in this category

A

Epigenetic modifications of the zygote. Some traits/genes are more likely to be passed on by one parent. Prader-Willi and Angelman syndromes

9
Q

Prader-Willi syndrome characteristics and causes

A

lack of expression in paternal allele. Can be the result of maternal UPD or paternal deletion

10
Q

Angelman syndrome characteristics and causes of Angelman’s syndrome

A

Lack of expression of maternal allele. Can be result of paternal UPD or maternal deletion

11
Q

What is anticipation

A

The increase in severity of a disorder in proceeding generations

12
Q

what is a premutation

A

just like it sounds–last stage in anticipation before mutation or trait becomes expressed