12 Questions
What type of mutation may result in the acquisition of a novel property by the mutant protein?
Gain-of-function mutation
Which condition is caused by a loss of a chromosome?
Turner syndrome
In Fragile X syndrome, decreased mRNA is caused by the silencing of which gene due to methylation?
FMR1 gene
Which mutation locks hemoglobin in its high oxygen affinity state?
Missense mutation (bAsp99Asn)
What is generally the cause of Trisomy 21?
Duplication of part or all of a chromosome
Which condition generally results from the duplication of peripheral myelin protein 22 (PMP22)?
Charcot-Marie-Tooth disease type 1A
What is the novel property mutation exemplified by sickle cell disease?
A mutation that alters a protein's normal function
Which condition arises from mutations associated with heterochronic gene expression?
Cancer
What is the primary reason for the benign nature of hereditary persistence of fetal hemoglobin?
Greater oxygen affinity of fetal hemoglobin
Which is an example of allelic heterogeneity?
Thalassemia resulting from mutations in the β-globin gene
What distinguishes locus heterogeneity from allelic heterogeneity?
Manifests as different clinical conditions
How does sickle hemoglobin differ from normal hemoglobin?
Sickle hemoglobin has higher oxygen affinity
Learn about the effects of mutations on hemoglobinopathies, including loss of function, gain of function, acquisition of novel properties by mutant proteins, and incorrect gene expression. Explore how these mutations can lead to diseases.
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