Understanding Deleterious Alleles and Genetic Imprinting

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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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