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Genetic Disorders

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Year 2 Quiz on Genetic Disorders, created by gina_evans0312 on 18/12/2013.
gina_evans0312
Quiz by gina_evans0312, updated more than 1 year ago
gina_evans0312
Created by gina_evans0312 about 11 years ago
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Resource summary

Question 1

Question
What is a compound heterozygote?
Answer
  • Two alleles that are heterozygous, but both gene products mimic the wild type allele
  • Heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state
  • Where one recessive allele causes the mutation of another

Question 2

Question
Autosomal recessive disorders are far more common between consaginous individuals
Answer
  • True
  • False

Question 3

Question
Heterozygotes with autosomal recessive alleles tend to manifest _ strongly than homozygotes
Answer
  • More
  • Equally
  • Less

Question 4

Question
Which of the following relationships describes A & D
Image:
Relationships (image/png)
Answer
  • First cousins once removed
  • Second cousins
  • Second cousins once removed
  • First cousins

Question 5

Question
What is the relationship between A & B
Image:
Relationships (image/png)
Answer
  • First cousins
  • Second cousins
  • First cousins once removed

Question 6

Question
Name the two factors that lead to Amish Microcelepathy in the Amish population
Answer
  • Founder Mutation
  • Infected Rye
  • Co-sanguinous relationships
  • Insufficient nutrients

Question 7

Question
By English law, how is incest defined?
Answer
  • Grandparent-Parent/Grandchild
  • Sibling-Sibling
  • Sibling- Half sibling
  • First cousins
  • Second cousins

Question 8

Question
What type of relationships would the children of the above parents have?
Image:
Double_1st (image/png)
Answer
  • Double first cousins
  • Demi-cousins
  • Half cousins
  • Double second cousins

Question 9

Question
Autosomal dominant mutations have a sex bias
Answer
  • True
  • False

Question 10

Question
What type of disease is being passed on in this pedigree?
Image:
Autosomal_Dominant (image/png)
Answer
  • Autosomal dominant
  • Autosomal recessive
  • X-Linked recessive
  • X-linked dominant

Question 11

Question
Autosomal dominant phenotypes often require environmental factors
Answer
  • True
  • False

Question 12

Question
Which of the sex chromosomes can carry a disorder?
Answer
  • X
  • Y

Question 13

Question
Which type of inheritance is shown by the pedigree pictured?
Image:
X-Linked_Disorder (image/png)
Answer
  • Autosomal dominant
  • X-Linked recessive
  • Autosomal recessive
  • Y Linked

Question 14

Question
Chromosome defects most often effect fertility
Answer
  • True
  • False

Question 15

Question
Why would a Y-linked disorder effect fertility?
Answer
  • Y chromosome genes most often effect sex organs
  • The Y chromosome damages genes for hormones more easily than any other gene

Question 16

Question
Diseased sons with a y-linked disorder must have diseased mothers
Answer
  • True
  • False

Question 17

Question
Which of the following is true of an X-linked recessive disorder?
Answer
  • No direct male to male transmission
  • The mother is usually the carrier
  • The father is usually the carrier
  • Effects mainly males
  • Effects mainly females
  • Males cannot be born to unaffected parents

Question 18

Question
A father will an X-linked recessive disease will mean that ALL his daughters are carriers
Answer
  • True
  • False

Question 19

Question
The following pedigree shows which type of inheritence?
Image:
X-Linked_Dominant (image/png)
Answer
  • Y-linked
  • X-linked dominant
  • X-linked recessive

Question 20

Question
Only females will be effected by an X-linked dominant allele
Answer
  • True
  • False

Question 21

Question
A father with an X-linked dominant will infect all his daughters
Answer
  • True
  • False

Question 22

Question
Of females and males, who are effected more mildly/variably by x-linked dominant disorders?
Answer
  • Females
  • Males
  • Both are effected equally

Question 23

Question
Which of the following is true about Rhett syndrome?
Answer
  • It is most likely to occur in the young
  • It is most likely to occur as you age
  • Caused by an MeCP2 fault
  • Caused by haploinsufficiency
  • Caused by Pseudodominance
  • Caused by faulty gene expression

Question 24

Question
Why is Genomic Imprinting a thing?
Answer
  • Some genes are selectively expressed from the maternal or paternal allele
  • Some genes are more dominant depending which parent it is expressed from
  • Maternal genes are more likely to cause disorders than paternal genes

Question 25

Question
Disorders due to genomic imprinting are caused when differential expression is lost
Answer
  • True
  • False

Question 26

Question
Amish microcephaly is an example of what?
Answer
  • Autosomal dominant
  • Autosomal recessive
  • X linked dominant
  • X linked recessive

Question 27

Question
Hemimegalencephaly is an example of what?
Answer
  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
  • Y-linked

Question 28

Question
Non-obstructive spermatogenic failure is an X-linked recessive disease
Answer
  • True
  • False

Question 29

Question
Colour blindness is an example of...
Answer
  • Y-linked
  • X-linked dominant
  • X-linked recessive

Question 30

Question
State some symptoms of CLUB4-mutated X-linked syndrome
Answer
  • Microcephaly
  • Small tesetes
  • Impaired speech
  • Impaired gait
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