20 Questions
Which of the following is a symptom commonly seen in the mid-stage of Huntington's disease?
Involuntary twitching
What is the average length of survival after clinical diagnosis of Huntington's disease?
10-20 years
What is the genetic mutation associated with Huntington's disease?
Expansion of a CAG repeat
What is the risk of inheriting the mutant gene for Huntington's disease if one parent is affected?
50%
What are the most common complications that can lead to death in late-stage Huntington's disease?
Choking, infection, and heart failure
Which one of these is the most common cause of familial hypercholesterolemia (FH)?
Mutations in the LDL receptor gene
Which one of these is a symptom of homozygous FH (HoFH)?
Xanthomas at birth or early childhood
Which one of these is NOT a treatment option for HoFH?
High levels of statins
Which one of these is a clinical symptom of Marfan syndrome?
Ectopia lentis
Which one of these is true about Huntington's disease?
It is caused by mutations in the huntingtin gene
Which one of the following is true about autosomal dominant inheritance?
The clinical phenotype is expressed even when just one mutant allele is present
Which one of the following is true about autosomal dominant diseases?
They are commonly seen in certain populations
Which one of the following is true about autosomal dominant pedigrees?
Generations are not skipped
Which one of the following is true about complete autosomal dominant inheritance?
The clinical symptoms of a heterozygote and homozygote are identical
Which one of the following is true about incomplete autosomal dominant inheritance?
The clinical symptoms of a heterozygote and homozygote are different
Which of the following statements about autosomal dominant inheritance is true?
The clinical phenotype is expressed even when just one mutant allele is present.
What is the frequency of autosomal dominant diseases in the population?
1 in 200 individuals
Which of the following is true about autosomal dominant inheritance?
Heterozygosity is seen in about 98% of individuals with autosomal dominant disorders.
What is the difference between complete and incomplete autosomal dominant inheritance?
Complete inheritance is when the clinical symptoms are identical in heterozygotes and homozygotes, while incomplete inheritance is when the symptoms are lesser in heterozygotes.
What is the chance of an offspring being affected if one parent is affected and the other parent is unaffected?
50%
Genetics Lecture 12
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