Mendelian Inheritance Flashcards
<p>What does a normal chromosome consist of?</p>
<p>Centromere</p>
<p>P arm</p>
<p>Q arm</p>
<p>What do mutations in genes do?</p>
<p>Alter the structure of the protein produced so change the function due to incorrect amino acid</p>
<p>What is an example of a disease associated mutation?</p>
<p>Sickle cell disorder</p>
<p>What kinds of inheritance does sickle cell disorder show?</p>
<p>Recessive</p>
<p>What is sickle cell disorder caused by?</p>
<p>Single mutation in one gene</p>
<p>What is a pedigree chart?</p>
<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>
<p>What are boys shown as in a pedigree chart?</p>
<p>Squares</p>
<p>What are girls shown as in a pedigree chart?</p>
<p>Circles</p>
<p>What are people who are affected shown as in a pedigree chart?</p>
<p>Coloured in</p>
<p>What can children be in a pedigree chart?</p>
<p>Unaffected</p>
<p>Carrier</p>
<p>Affected</p>
<p>What is used to determine the risk of a child inheriting a disorder?</p>
<p>Punnet square</p>
<p>What is recessive and what is dominant in a punnet square?</p>
<p>Lowercase is recessive</p>
<p>Uppercase is dominant</p>
<p>What can some kinds of recessive inheritance give?</p>
<p>A mildversion of the disease (carrier shows mild symptoms)</p>
<p>What is cystic fibrosis caused by?</p>
<p>A single gene mutation</p>
<p>How many kinds of mutations cause cystic fibrosis?</p>
<p>3000</p>
<p>How many people are a carrier of cystic fibrosis in the UK?</p>
<p>1/25</p>
<p>How many people are affected by cystic fibrosis in the UK?</p>
<p>1/2500</p>
<p>What kind of disorder is cystic fibrosis?</p>
<p>Autosomal recessive</p>
<p>What kind of disorder is achondroplasia?</p>
<p>Autosomal dominant disorder</p>
<p>What is achondroplasia?</p>
<p>Autosomal dominant disorder where long bones are shortened due to a mutation</p>
<p>What do you see in a pedigree chart of autosomal dominance?</p>
<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>
<p>What kind of disorder is Huntington's disease?</p>
<p>Autosomal dominant</p>
<p>What is Huntington's disease?</p>
<p>Autosomal dominant disorder that is neuro-degenerative</p>
<p>What are some genetic disorders that are not autosomal?</p>
<p>Sex linked (X linked)</p>
<p>What are properties of sex linked disorders?</p>
<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>
<p>What kind of disorder is Duchenne muscular dystrophy?</p>
<p>Sex linked disorder</p>
<p>Multiple genes in the same molecular pathway can cause what?</p>
<p>The same mendelian disease</p>
<p>What are examples of disorders caused by many genes?</p>
<p>Long QT</p>
<p>ARVC</p>
<p>Cardiomyopathy</p>
