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What is a compound heterozygote?
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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
Frage 2
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Autosomal recessive disorders are far more common between consaginous individuals
Frage 3
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Heterozygotes with autosomal recessive alleles tend to manifest _ strongly than homozygotes
Frage 4
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Which of the following relationships describes A & D
Frage 5
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What is the relationship between A & B
Frage 6
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Name the two factors that lead to Amish Microcelepathy in the Amish population
Frage 7
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By English law, how is incest defined?
Frage 8
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What type of relationships would the children of the above parents have?
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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
Frage 9
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Autosomal dominant mutations have a sex bias
Frage 10
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What type of disease is being passed on in this pedigree?
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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
Frage 11
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Autosomal dominant phenotypes often require environmental factors
Frage 12
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Which of the sex chromosomes can carry a disorder?
Frage 13
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Which type of inheritance is shown by the pedigree pictured?
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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
Frage 14
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Chromosome defects most often effect fertility
Frage 15
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Why would a Y-linked disorder effect fertility?
Frage 16
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Diseased sons with a y-linked disorder must have diseased mothers
Frage 17
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Which of the following is true of an X-linked recessive disorder?
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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
Frage 18
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A father will an X-linked recessive disease will mean that ALL his daughters are carriers
Frage 19
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The following pedigree shows which type of inheritence?
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Y-linked
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X-linked dominant
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X-linked recessive
Frage 20
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Only females will be effected by an X-linked dominant allele
Frage 21
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A father with an X-linked dominant will infect all his daughters
Frage 22
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Of females and males, who are effected more mildly/variably by x-linked dominant disorders?
Frage 23
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Which of the following is true about Rhett syndrome?
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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
Frage 24
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Why is Genomic Imprinting a thing?
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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
Frage 25
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Disorders due to genomic imprinting are caused when differential expression is lost
Frage 26
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Amish microcephaly is an example of what?
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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
Frage 27
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Hemimegalencephaly is an example of what?
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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
Frage 28
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Non-obstructive spermatogenic failure is an X-linked recessive disease
Frage 29
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Colour blindness is an example of...
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Y-linked
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X-linked dominant
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X-linked recessive
Frage 30
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State some symptoms of CLUB4-mutated X-linked syndrome
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Microcephaly
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Small tesetes
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Impaired speech
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Impaired gait