1.1 Modes Of Inheritance

Question 1

Empty square

Answer 1

Unaffected male

Question 2

Empty circle

Answer 2

Unaffected female

Question 3

Shaded square

Answer 3

Affected male

Question 4

Shaded circle

Answer 4

Affected female

Question 5

Half shaded square

Answer 5

Carrier male (autosomal)

Question 6

Autosomal

Answer 6

Any chromosome that is not a sex chromosome

Question 7

Half shaded circle

Answer 7

Carrier female (autosomal)

Question 8

Circle with a dot

Answer 8

Carrier female (x linked recessive)

Question 9

Square with diagonal line

Answer 9

Deceased male

Question 10

Circle with diagonal line

Answer 10

Deceased female

Question 11

Arrow to corner of square or circle

Answer 11

Proband - person seeking medical attention

Question 12

dominant

Answer 12

If it manifests in a heterozygous

Question 13

Locus

Answer 13

Point on a gene

Question 14

Autosomal dominant

Answer 14

Single gene/ allele disease
Vertical pedigree pattern

Each child has a 1 in 2 chance of being affected
Males and females equally affected

Question 15

Gain of function

Answer 15

Gene makes a protein with a new function

Question 16

Dominant negative effect

Answer 16

Interfere with activity of proteins

Question 17

Haploinsufficient

Answer 17

Loss of one copy and remaining copy can’t produce enough protein for normal function

Question 18

Autosomal dominant can manifest molecularly as

Answer 18

Gain of function

Dominant negative effect

Haploinsufficient

Question 19

Huntingtons disease

Answer 19

Symptoms from 30-50 years

Include difficulty concentrating, depression, stumbling, involuntary jerking, problems swallowing

Mutation is glutamine (cag) expansion

Results in gain of function is toxic to neurons resulting in cell death

Question 20

HTC

Answer 20

Hypertrophic cardiomyopathy

Question 21

Hypertrophic cardiomyopathy

Answer 21

Abnormal thickening heart muscles reduces volume and stiffens walls can cause sudden cardiac death

Mutation in 11 proteins

Results in reduced cardiac function then hypertrophy

Question 22

Mutation in hyperrophic cardiomyopathy

Answer 22

B myosin heavy chain (myh7)

Decreased atpase activity

Question 23

Gene responsible for eye colour

Answer 23

OCA-2 controls amount of melanin in melanocytee

Question 24

Mutation in huntingtons disease

Answer 24

Glutamine (CAG) expansion

Question 25

Autosomal recessive people

Answer 25

Carriers

Question 26

Carriers

Answer 26

Lost a single copy of a gene but normal one is insufficient to maintain normal function

Question 27

Recessive tend to be what type of mutation

Answer 27

Loss of functiom

Question 28

Horizontal pedigree pattern

Answer 28

Multiple people in a generation affected

Question 29

What increases risk of autosomal recessive disease

Answer 29

Consanguinity

Question 30

Mutation of cf

Answer 30

Gene encoding chloride ion channel (CTFR gene on chromosome 7)

Question 31

Cf results in

Answer 31

Defective chloride ion channels
Loss of function

Failure to thrive, impaired airway defence, prone to respiratory infection

Question 32

X linked disorder affect

Answer 32

Mainly males because only have 1 X chromosomes

Question 33

Affected boy has an affected uncle

Answer 33

Probably x linked recessive

Question 34

Children of a man w x linked recessive

Answer 34

All daughters carriers (men only have 1 x)

All sons healthy as they inherit the y

Question 35

Example of an x linked recessive disorder

Answer 35

Haemophilia - bleeding due to lack of factors 8 and 9

Question 36

X linked dominant

Answer 36

All daughters and no sons of affected father are affected

Question 37

Example of x linked dominant

Answer 37

Hypophosphatemua

Question 38

Y linked

Answer 38

Only affects males

Vertical pedigree pattern

Question 39

Mitochondrial disease caused by

Answer 39

Mitochondrial dna

Question 40

Mitochondrial inherited disorders

Answer 40

Maternally inherited

Vertical pedigree pattern

Question 41

Heteroplasmy

Answer 41

Mitochondria have multiple copies of genomes and will only express disease when above a threshold

Question 42

How do mitochondrial disease vary

Answer 42

Heteroplasmy

Replicate by binary fission can lose or gain mutated gene

Question 43

What age are mitochondrial diseases more prominent in

Answer 43

Develop with age due to accumukati9n of mutant mitochondria

Question 44

Where are commonly affected sites of mitochondrial disease

Answer 44

Parts that rely on high energy sources

Motor and nerve function and eyes

Question 45

Example of mitochondrial disease

Answer 45

Lebers hereditary optic neuropathy

Visual loss in young adulthood

Question 46

What do mitochondria share an evolutionary past with

Answer 46

Bacteria

Question 47

Example of a y linked disorder

Answer 47

Retinitis pigmentosa

Sight loss