Pregunta 1
Pregunta
What is a compound heterozygote?
Respuesta
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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
Pregunta 2
Pregunta
Autosomal recessive disorders are far more common between consaginous individuals
Pregunta 3
Pregunta
Heterozygotes with autosomal recessive alleles tend to manifest _ strongly than homozygotes
Pregunta 4
Pregunta
Which of the following relationships describes A & D
Pregunta 5
Pregunta
What is the relationship between A & B
Pregunta 6
Pregunta
Name the two factors that lead to Amish Microcelepathy in the Amish population
Pregunta 7
Pregunta
By English law, how is incest defined?
Pregunta 8
Pregunta
What type of relationships would the children of the above parents have?
Respuesta
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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
Pregunta 9
Pregunta
Autosomal dominant mutations have a sex bias
Pregunta 10
Pregunta
What type of disease is being passed on in this pedigree?
Respuesta
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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
Pregunta 11
Pregunta
Autosomal dominant phenotypes often require environmental factors
Pregunta 12
Pregunta
Which of the sex chromosomes can carry a disorder?
Pregunta 13
Pregunta
Which type of inheritance is shown by the pedigree pictured?
Respuesta
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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
Pregunta 14
Pregunta
Chromosome defects most often effect fertility
Pregunta 15
Pregunta
Why would a Y-linked disorder effect fertility?
Pregunta 16
Pregunta
Diseased sons with a y-linked disorder must have diseased mothers
Pregunta 17
Pregunta
Which of the following is true of an X-linked recessive disorder?
Respuesta
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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
Pregunta 18
Pregunta
A father will an X-linked recessive disease will mean that ALL his daughters are carriers
Pregunta 19
Pregunta
The following pedigree shows which type of inheritence?
Respuesta
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Y-linked
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X-linked dominant
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X-linked recessive
Pregunta 20
Pregunta
Only females will be effected by an X-linked dominant allele
Pregunta 21
Pregunta
A father with an X-linked dominant will infect all his daughters
Pregunta 22
Pregunta
Of females and males, who are effected more mildly/variably by x-linked dominant disorders?
Pregunta 23
Pregunta
Which of the following is true about Rhett syndrome?
Respuesta
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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
Pregunta 24
Pregunta
Why is Genomic Imprinting a thing?
Respuesta
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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
Pregunta 25
Pregunta
Disorders due to genomic imprinting are caused when differential expression is lost
Pregunta 26
Pregunta
Amish microcephaly is an example of what?
Respuesta
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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
Pregunta 27
Pregunta
Hemimegalencephaly is an example of what?
Respuesta
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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
Pregunta 28
Pregunta
Non-obstructive spermatogenic failure is an X-linked recessive disease
Pregunta 29
Pregunta
Colour blindness is an example of...
Respuesta
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Y-linked
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X-linked dominant
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X-linked recessive
Pregunta 30
Pregunta
State some symptoms of CLUB4-mutated X-linked syndrome
Respuesta
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Microcephaly
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Small tesetes
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Impaired speech
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Impaired gait