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Ch. 19 - Epigenetics
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776당신이 사용하는 게 아니라요?교과서 변경
19장, 문제 19b

A developmental disorder in humans called spina bifida is a neural tube defect linked to a maternal diet low in folate during pregnancy.
Does this exclude genetic mutations as a cause of this condition?

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Understand the context: Spina bifida is a neural tube defect influenced by both environmental factors (e.g., maternal diet low in folate) and genetic factors. The question asks whether genetic mutations can also contribute to this condition.
Clarify the role of folate: Folate is crucial for DNA synthesis and repair during early development. A deficiency in folate can disrupt normal neural tube closure, increasing the risk of spina bifida. However, this does not rule out genetic contributions.
Explore genetic factors: Genetic mutations in genes involved in folate metabolism (e.g., MTHFR gene) or neural tube development (e.g., VANGL1, SHROOM3) can predispose individuals to spina bifida, even in the presence of adequate folate levels.
Consider gene-environment interactions: Spina bifida is often the result of complex interactions between genetic predispositions and environmental factors, such as maternal folate levels. Both components can play a role in the condition's development.
Conclude: While a maternal diet low in folate is a significant risk factor, it does not exclude genetic mutations as a cause of spina bifida. Both genetic and environmental factors contribute to the condition, and their interplay is critical in understanding its etiology.

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주요 개념

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Neural Tube Defects

Neural tube defects (NTDs) are serious birth defects that occur when the neural tube, which forms the brain and spinal cord, does not close completely during early fetal development. Spina bifida is one of the most common NTDs, characterized by incomplete closure of the spinal column, leading to varying degrees of disability. Understanding NTDs is crucial for recognizing the multifactorial nature of conditions like spina bifida.
추천 영상:
가이드 코스
07:10
Other Gene Interactions

Folate and Its Role in Development

Folate, a B-vitamin, is essential for DNA synthesis and repair, as well as cell division, making it particularly important during pregnancy. A maternal diet low in folate has been linked to an increased risk of NTDs, including spina bifida. This highlights the significance of nutritional factors in fetal development and the prevention of certain congenital disorders.
추천 영상:
가이드 코스
08:30
Genetics of Development

Genetic Mutations and Multifactorial Disorders

Genetic mutations can contribute to the risk of developing conditions like spina bifida, but they are often part of a multifactorial model where both genetic and environmental factors interact. While a low folate diet is a significant risk factor, it does not exclude the possibility that genetic predispositions may also play a role in the occurrence of spina bifida, indicating the complexity of its etiology.
추천 영상:
가이드 코스
10:48
Mutations and Phenotypes
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What does this suggest about the cause of spina bifida?

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Prader–Willi syndrome (PWS) is a genetic disorder with a clinical profile of obesity, intellectual disability, and short stature. It can be caused in several ways. Most common is a deletion on the paternal copy of chromosome 15, but it can also be caused by an epigenetic imprinting disorder and uniparental disomy, an event in which the affected child receives two copies of the maternal chromosome 15. A child with PWS comes to your clinic for a diagnosis of the molecular basis for this condition. The gel below shows the results of testing with short tandem repeats (STRs) from the region of chromosome 15 associated with the disorder.

Is this case caused by a deletion in the paternal copy of chromosome 15? Explain.

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