Skip to main content
Ch. 19 - Epigenetics
Chapter 18, Problem 19

A developmental disorder in humans called spina bifida is a neural tube defect linked to a maternal diet low in folate during pregnancy.

Should researchers be looking for mutant alleles of genes that control formation and differentiation of the neural tube?

Verified step by step guidance
1
Understand the role of folate in neural tube development: Folate is crucial for DNA synthesis and repair, which are vital processes during the rapid cell division and growth that occur in early pregnancy.
Recognize the genetic component: While folate deficiency is a known environmental factor, genetic predispositions can also contribute to neural tube defects like spina bifida.
Consider the possibility of genetic mutations: Researchers should investigate whether there are specific mutant alleles in genes responsible for neural tube formation and differentiation that could increase the risk of spina bifida.
Identify candidate genes: Focus on genes involved in folate metabolism and those directly involved in neural tube development, such as MTHFR, which is known to affect folate metabolism.
Design genetic studies: Use techniques like genome-wide association studies (GWAS) or sequencing to identify potential mutations in these candidate genes that may be linked to an increased risk of spina bifida.

Verified Solution

Video duration:
59s
This video solution was recommended by our tutors as helpful for the problem above.
Was this helpful?

Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Neural Tube Development

The neural tube is a structure in the early embryo that eventually develops into the brain and spinal cord. Proper formation and closure of the neural tube are critical for normal central nervous system development. Defects in this process can lead to conditions like spina bifida, where the neural tube fails to close completely.
Recommended video:
Guided course
21:21
Gamete Development

Folate and Its Role in Development

Folate, or vitamin B9, is essential for DNA synthesis, repair, and methylation, making it crucial during periods of rapid cell division and growth, such as pregnancy. A maternal diet low in folate has been linked to an increased risk of neural tube defects, highlighting the importance of adequate folate intake for fetal development.
Recommended video:
Guided course
08:30
Genetics of Development

Genetic Mutations and Alleles

Mutant alleles are variations of genes that can lead to altered functions or traits. In the context of neural tube defects, researchers may investigate specific genes involved in neural tube formation to identify any mutations that could contribute to conditions like spina bifida. Understanding these genetic factors can help in developing preventive strategies.
Recommended video:
Guided course
03:03
New Alleles and Migration
Related Practice
Textbook Question

How are mutations in histone acetylation (HAT) genes linked to cancer?

269
views
Textbook Question

A developmental disorder in humans called spina bifida is a neural tube defect linked to a maternal diet low in folate during pregnancy.

What does this suggest about the cause of spina bifida?

267
views
Textbook Question

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?

221
views
Textbook Question

Trace the relationship between the methylation status of the glucocorticoid receptor gene and the behavioral response to stress.

288
views
Textbook Question

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.


604
views
Textbook Question

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.

Based on your interpretation of the data, what is the cause of PWS in this case? Explain your reasoning. 

597
views