Mendelian Inheritance

Question 1

<p>What does a normal chromosome consist of?</p>

Answer 1

<p>Centromere</p>

<p>P arm</p>

<p>Q arm</p>

Question 2

<p>What do mutations in genes do?</p>

Answer 2

<p>Alter the structure of the protein produced so change the function due to incorrect amino acid</p>

Question 3

<p>What is an example of a disease associated mutation?</p>

Answer 3

<p>Sickle cell disorder</p>

Question 4

<p>What kinds of inheritance does sickle cell disorder show?</p>

Answer 4

<p>Recessive</p>

Question 5

<p>What is sickle cell disorder caused by?</p>

Answer 5

<p>Single mutation in one gene</p>

Question 6

<p>What is a pedigree chart?</p>

Answer 6

<p>A family history that can show inheritance of mutations where:</p>

<p></p>

<p>Boys are shown as squares</p>

<p>Girls are shown as circles</p>

<p>Affected are coloured in</p>

Question 7

<p>What are boys shown as in a pedigree chart?</p>

Answer 7

<p>Squares</p>

Question 8

<p>What are girls shown as in a pedigree chart?</p>

Answer 8

<p>Circles</p>

Question 9

<p>What are people who are affected shown as in a pedigree chart?</p>

Answer 9

<p>Coloured in</p>

Question 10

<p>What can children be in a pedigree chart?</p>

Answer 10

<p>Unaffected</p>

<p>Carrier</p>

<p>Affected</p>

Question 11

<p>What is used to determine the risk of a child inheriting a disorder?</p>

Answer 11

<p>Punnet square</p>

Question 12

<p>What is recessive and what is dominant in a punnet square?</p>

Answer 12

<p>Lowercase is recessive</p>

<p>Uppercase is dominant</p>

Question 13

<p>What can some kinds of recessive inheritance give?</p>

Answer 13

<p>A mildversion of the disease (carrier shows mild symptoms)</p>

Question 14

<p>What is cystic fibrosis caused by?</p>

Answer 14

<p>A single gene mutation</p>

Question 15

<p>How many kinds of mutations cause cystic fibrosis?</p>

Answer 15

<p>3000</p>

Question 16

<p>How many people are a carrier of cystic fibrosis in the UK?</p>

Answer 16

<p>1/25</p>

Question 17

<p>How many people are affected by cystic fibrosis in the UK?</p>

Answer 17

<p>1/2500</p>

Question 18

<p>What kind of disorder is cystic fibrosis?</p>

Answer 18

<p>Autosomal recessive</p>

Question 19

<p>What kind of disorder is achondroplasia?</p>

Answer 19

<p>Autosomal dominant disorder</p>

Question 20

<p>What is achondroplasia?</p>

Answer 20

<p>Autosomal dominant disorder where long bones are shortened due to a mutation</p>

Question 21

<p>What do you see in a pedigree chart of autosomal dominance?</p>

Answer 21

<p>Each child has a 50/50 change of inheriting the mutation</p>

<p>No skipped generations</p>

<p>Equally transmitted by men and woman</p>

Question 22

<p>What kind of disorder is Huntington's disease?</p>

Answer 22

<p>Autosomal dominant</p>

Question 23

<p>What is Huntington's disease?</p>

Answer 23

<p>Autosomal dominant disorder that is neuro-degenerative</p>

Question 24

<p>What are some genetic disorders that are not autosomal?</p>

Answer 24

<p>Sex linked (X linked)</p>

Question 25

<p>What are properties of sex linked disorders?</p>

Answer 25

<p>Only males affected classically</p>

<p>Can skip generations</p>

<p>Unaffected woman and affected men can transmit the condition</p>

<p>No male to male transmission</p>

Question 26

<p>What kind of disorder is Duchenne muscular dystrophy?</p>

Answer 26

<p>Sex linked disorder</p>

Question 27

<p>Multiple genes in the same molecular pathway can cause what?</p>

Answer 27

<p>The same mendelian disease</p>

Question 28

<p>What are examples of disorders caused by many genes?</p>

Answer 28

<p>Long QT</p>

<p>ARVC</p>

<p>Cardiomyopathy</p>