Exam (elaborations)
ABGC Boards – Imprinting (GENC 620 - Imprinting Disorders Lecture) – Q&A
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ABGC Boards – Imprinting (GENC 620 - Imprinting Disorders Lecture) – Q&A
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ABGC Boards – Imprinting (GENC 620 - Imprinting Disorders Lecture) – Q&ADefine epigenetics Correct Ans - Anything other than DNA sequence that influences gene activity
Define imprinting Correct Ans - When autosomal genes are exclusively
expressed from paternal or maternal homolog
What is the major mechanism of imprinting? Correct Ans - Methylation
About what percentage of genes are imprinted? Correct Ans - 5%
In cases of imprinting, is the inactive allele usually hypomethylated/hypermethylated? Correct Ans - Hypermethylated
What genomic region is associated with Prader Willi Syndrome? Correct Ans - 15q11-13
What are the three etiologies of Prader Willi Syndrome (along with their prevalence)? Correct Ans - 70% due to paternal 15q11-13 deletion
25% due to maternal UPD
<5% due to mutations within imprinting control region (paternal inheritance)
Prader Willi Syndrome symptoms (9) Correct Ans - Hypotonia
Hyperphagia
Obesity (weight carried in midsection)
Hypogonadism
Small hands and feet with tapering fingers
Short stature
Global DD
Hypopigmentation relative to family
Food seeking behavior
What three testing modalities are recommended for suspected Prader Willi? Correct Ans - Methylation analysis (for del + UPD)
FISH (del)
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