17 Questions
What term describes the situation when an individual carries a deleterious allele but does not display symptoms of the associated disease?
Incomplete penetrance
Which of the following diseases is caused by a mutation in the paternal chromosome at the AS/PWS locus on chromosome 15?
Prader Willi Syndrome
In genetic imprinting, which parent's chromosome mutation leads to Angelman Syndrome?
Maternal chromosome
What molecular process can prevent a gene from being transcribed by adding methyl groups to specific nucleotides?
Methylation
Which term refers to the phenomenon where methylation marks are removed and added back during gametogenesis?
Methylation reprogramming
In genetics, what term describes the situation where certain genes are only expressed based on their parental origin?
Imprinting
Which type of mutation may become an allele in the population?
Silent mutation
What type of mutation may cause frameshift mutation?
INDELS
Which term describes a single nucleotide change that can sometimes be present at high frequency in a population?
Single nucleotide polymorphism
What do SNP and INDELS give rise to?
Different alleles
Which term describes the variation caused by a combination of different alleles?
Variation
Which type of cells are typically used for genetic testing?
White blood cells
Individuals with (CGG)n repeat of over 200 are more likely to exhibit:
Somatic mosaicism
Imprinting characteristics suggest that alleles transmitted from females are more likely to:
Expand
Genetic anticipation is a phenomenon characterized by:
Increasing severity of a genetic disorder in successive generations
Which of the following is NOT associated with Down syndrome?
Cystic fibrosis
In the context of genetic diseases, incomplete penetrance refers to:
The presence of a genetic mutation that does not result in the expected phenotype
Explore reasons for higher than expected frequencies of deleterious alleles, including low penetrance at reproductive age, asymptomatic carriers, founder effects, and genetic imprinting. Learn about imprinting at the AS/PWS locus on chromosome 15 and its connection to Angelman and Prader-Willi syndromes.
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