Question 1
Question
What is a compound heterozygote?
Answer
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Two alleles that are heterozygous, but both gene products mimic the wild type allele
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Heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state
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Where one recessive allele causes the mutation of another
Question 2
Question
Autosomal recessive disorders are far more common between consaginous individuals
Question 3
Question
Heterozygotes with autosomal recessive alleles tend to manifest _ strongly than homozygotes
Question 4
Question
Which of the following relationships describes A & D
Question 5
Question
What is the relationship between A & B
Question 6
Question
Name the two factors that lead to Amish Microcelepathy in the Amish population
Question 7
Question
By English law, how is incest defined?
Question 8
Question
What type of relationships would the children of the above parents have?
Answer
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Double first cousins
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Demi-cousins
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Half cousins
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Double second cousins
Question 9
Question
Autosomal dominant mutations have a sex bias
Question 10
Question
What type of disease is being passed on in this pedigree?
Answer
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Autosomal dominant
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Autosomal recessive
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X-Linked recessive
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X-linked dominant
Question 11
Question
Autosomal dominant phenotypes often require environmental factors
Question 12
Question
Which of the sex chromosomes can carry a disorder?
Question 13
Question
Which type of inheritance is shown by the pedigree pictured?
Answer
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Autosomal dominant
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X-Linked recessive
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Autosomal recessive
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Y Linked
Question 14
Question
Chromosome defects most often effect fertility
Question 15
Question
Why would a Y-linked disorder effect fertility?
Question 16
Question
Diseased sons with a y-linked disorder must have diseased mothers
Question 17
Question
Which of the following is true of an X-linked recessive disorder?
Answer
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No direct male to male transmission
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The mother is usually the carrier
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The father is usually the carrier
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Effects mainly males
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Effects mainly females
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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
Question 19
Question
The following pedigree shows which type of inheritence?
Answer
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Y-linked
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X-linked dominant
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X-linked recessive
Question 20
Question
Only females will be effected by an X-linked dominant allele
Question 21
Question
A father with an X-linked dominant will infect all his daughters
Question 22
Question
Of females and males, who are effected more mildly/variably by x-linked dominant disorders?
Question 23
Question
Which of the following is true about Rhett syndrome?
Answer
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It is most likely to occur in the young
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It is most likely to occur as you age
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Caused by an MeCP2 fault
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Caused by haploinsufficiency
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Caused by Pseudodominance
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Caused by faulty gene expression
Question 24
Question
Why is Genomic Imprinting a thing?
Answer
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Some genes are selectively expressed from the maternal or paternal allele
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Some genes are more dominant depending which parent it is expressed from
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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
Question 26
Question
Amish microcephaly is an example of what?
Answer
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Autosomal dominant
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Autosomal recessive
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X linked dominant
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X linked recessive
Question 27
Question
Hemimegalencephaly is an example of what?
Answer
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Autosomal dominant
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Autosomal recessive
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X-linked recessive
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Y-linked
Question 28
Question
Non-obstructive spermatogenic failure is an X-linked recessive disease
Question 29
Question
Colour blindness is an example of...
Answer
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Y-linked
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X-linked dominant
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X-linked recessive
Question 30
Question
State some symptoms of CLUB4-mutated X-linked syndrome
Answer
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Microcephaly
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Small tesetes
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Impaired speech
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Impaired gait