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Flashcards in Week 1 GID Deck (62)
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1

Is stroke genetic or enviromental cause or both.

multifactorial with environment and polygenic factors. Sometimes can be caused by a single gene influence (Cadasil)

2

The traits of a genetic disorder

Rare, Genetics simple, Unifactorial, High recurrence rate: high chance of others to have disorder

3

The traits of enviromental disorder

Common, Genetically complex, multifactorial, low recurrence rate,

4

What does multifatorial mean

The combination of multiple gene inheritance and the affect of the enviroment

5

What is single gene mutation

mutation in a single gene

6

Chromosomal mutation

imbalance or rearrangement in chromosome structure eg aneuploidy, deletion, translocation

7

Mitochondrial

mutation in mitochondrial DNA

8

Somatic mutation

Mutation that occur in the general genes and can cause cancer

9

Does AD inhertiance run between generation and does it affect males or females more?

runs between generations and affects males and females equally

10

% chance of inheritance of AD disease

50% chance of inhertiance for new born

11

Give examples of AD inhertiance disease

Myotonic dystrophy
Marfan Syndrome
Huntington disease

12

What does penetrance mean?

The frequency with which a specific genotype is expressed by those individuals that possess it, usually given as a percentage.

13

What is incomplete inheritance and give example of mutation of this type?

not all relatives who inherit the mutation develop the disorder – eg BRCA1 mutations 80% life time chance of developing breast cancer

14

What type of inheritance is AD

incomplete inheritance

15

What does expressivity mean?

variation in expression - the extent to which a heritable trait is manifested by an individual.  how the disease shows itself

16

What does Anticipation mean and give example

the symptoms of a genetic disorder become apparent at an earlier age as it is passed from one generation to the next. In most cases there is an increase in the severity of symptoms too. Example is Huntington’s disease

17

New mutation/ De novo

a new mutation that has occurred during gametogenesis or in early embryonic development. The parents do not have it

18

Is Ar disease passed on between generations and equal between genders

Usually only seen in one generation and equal in affect

19

Is Ar inheritance gene mutation or chromosomal deletion

gene mutation

20

What is the chance of inheriting a Ar disease

1/4

21

Risk of the unbrone child being a carrier of Ar diseae

2/3rds

22

Give examples of Ar diseases

• Cystic fibrosis
• Many of the metabolic disorders
• Haemachromatosis
• Sickle cell disease

23

In X linked disease is the male or female affected

Male are affected but females can be mildly affected ranging to severe symtpoms

24

Can or cant a male transmit the XL disease and why?

It cannot because males only give the Y chromsome and therefore only transmit from the female

25

give examples of XL diseases

o Duchenne Muscular dystrophy,
o Fragile X syndrome
o Red / green colour-blindness
o Haemophilia

26

What are the probablities for the child if the mother is a carrier

o 1/4 (25%) normal girl + 1/4 (25%) carrier girl
o 1/4 (25%) normal boy + 1/4 (25%) affected boy

27

Probablity if the father is affected

o All daughters are carriers
o All sons are unaffected (no male to male transmission

28

The two main factors that affect the expression of the phenotype of XL disease in females is

X inactivation
XL dominant vs XL recessive inheritance

29

Can you predict the phenotype of a female who havea XL disease with prenatal testing?

NO

30

What is X inactivation

It is when the gamete has two X chromosomes and one of the X chrosome is randomly switched off. Occurs in embryogensis