Part I: Lecture 25

Question 1

XR inheritance: WT allele

Answer 1

A

Question 2

XR inheritance: mutant allele

Answer 2

a

Question 3

XR inheritance: a/Y

Answer 3

affected male; hemizygous

Question 4

XR inheritance: A/a

Answer 4

carrier female

Question 5

XR inheritance: a/a

Answer 5

affected female

Question 6

How to know if it is XR inheritance

Answer 6

-skips generations like AR
-more common in males

Question 7

XR inheritance: affected father –>

Answer 7

all daughters carriers
no sons affected

Question 8

XR inheritance: carrier mother–>

Answer 8

sons might be affected
daughters might be carriers

Question 9

Hemophilia A gene affected

Answer 9

F8 gene

Question 10

F8 gene makes __

Answer 10

blood clotting factor protein

Question 11

mutant F8 gene result

Answer 11

internal and external bleeding can’t be stopped

Question 12

X-linked genes (dominant or recessive) are present on ___

Answer 12

the unique part of X chromosome

Question 13

Hemophilia A solution

Answer 13

recombinant human factor 8 from E-coli

Question 14

F8+/F8- females phenotype

Answer 14

almost normal coagulation of blood because of random X-inactivation

Question 15

XD inheritance: WT allele

Answer 15

a

Question 16

XD inheritance: mutant allele

Answer 16

A

Question 17

XD inheritance: A/Y

Answer 17

affected male

Question 18

XD inheritance: A/A or A/a

Answer 18

affected female

Question 19

How to know if it is XD inheritance

Answer 19

-found in each generation- looks like AD
-affects males and female equally

Question 20

XD inheritance: affected mother –>

Answer 20

sons might be affected
daughters might be affected

Question 21

XD inheritance: affected father –>

Answer 21

all daughters affected
no sons affected

Question 22

Fragile X syndrome gene affected

Answer 22

FMR1 gene

Question 23

FMR1 gene encodes ___

Answer 23

protein needed by brain neurons

Question 24

mutant allele of FMR1 gene

Answer 24

more than 200 repeats in 5’UTR = gene non -functional

Question 25

WT allele of FMR1 gene

Answer 25

less than 200 repeats in 5'UTR = gene functional

Question 26

mutant allele of FMR1 gene binds to ____

Answer 26

negative TFs

Question 27

consequences of FMR1 gene repeat expansion mutation

Answer 27

-no proteins -constrictions in chromosome of metaphase spread

Question 28

FMR1-/Y males result

Answer 28

-no neurons make FMR1 proteins (IQ < 50)

Question 29

FMR1+/FMR1- females result

Answer 29

-50% of neurons make FMR1 proteins (IQ 50- 70)- severity based upon number and location within the brain

Question 30

base pairs substitution doesn't show in _____

Answer 30

chromosomes during metaphase spread

Question 31

mitochondria is donated exclusively by ___

Answer 31

female parents

Question 32

M inheritance: if most or all of the mitochondria in oocyte is affected then ___

Answer 32

child will be affected

Question 33

M inheritance: affected mother -->

Answer 33

all offspring affected

Question 34

M inheritance: affected father -->

Answer 34

no offspring affected

Question 35

mitochondria are very important in ___ cells because of ___

Answer 35

retina ATP and or specialized function

Question 36

leber hereditary optical neuropathy mutations in ___ resulting in defects in ___ --> disease: ___

Answer 36

mitochondria chromosomes complex I blindness during early adulthood - mid 20s

Question 37

mutations in chloroplast chromosomes produce similar ______

Answer 37

inheritance pattern to mitochondrial chromosomes