11 Questions
Which term refers to the physical appearance or measurable characteristic of an organism, resulting from its genotype and interaction with the environment?
Phenotype
What is the term for the two sets of chromosomes found in most cells?
Diploid
In Mendelian inheritance, what is the term for a gene copy that can vary slightly in its DNA sequence?
Allele
What is the term for a mutation of a single copy of a gene that causes a disease phenotype?
Dominant Negative Effect
Which type of inheritance pattern is characterized by a 'vertical' pattern in the pedigree, where the phenotype is seen in every generation?
Autosomal Dominant
In an autosomal recessive inheritance pattern, when two carriers mate, what is the probability of having an affected offspring?
1/4
What is the term used to describe the proportion of individuals with a given genotype who show the associated phenotype?
Penetrance
What is the term used to describe the situation where different genetic defects produce identical or similar clinical phenotypes?
Genetic heterogeneity
Which of the following best describes autosomal dominant inheritance?
It is a type of inheritance where the disease phenotype is expressed in individuals who inherit one copy of the mutated gene.
Which of the following best describes autosomal recessive inheritance?
It is a type of inheritance where the disease phenotype is only expressed in individuals who inherit two copies of the mutated gene.
What is genetic heterogeneity?
It is the presence of different genes at different loci on homologous chromosomes.
Test your knowledge of Mendelian genetics, specifically focusing on autosomal dominant inheritance and exceptions. This quiz will assess your ability to identify inheritance models in genetic diseases from pedigrees. Perfect for medical students and those studying genetics.
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