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Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052

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BuyFindarrow_forward

Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052
Chapter 5.5, Problem 1GR
Textbook Problem
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In the absence of folate-fortified foods, is it possible that mutations in the pathway of folate synthesis could cause SB?

Summary Introduction

To determine: The possibility of mutation in the pathway of folate synthesis to cause Spina bifida (SB) in the absence of folate-fortified foods.

Introduction: SB is a complex birth defect that involves neural tube (important for the brain and spinal cord development) defects in the individual. The affected individuals suffer from muscle imbalance, crippling deformities, and even paralysis in some cases. The defect is caused by the mutation in the gene VANGL1. A folate-rich diet reduces the severity of the defect and its incidence by 70%.

Explanation of Solution

‘Spina bifida’ is a birth defect which is caused by the incomplete closing of the backbone and the membranes around the spinal cord. The research has shown that the amount of folate present in the diet has a significant impact on the frequency of SB. Moreover, deficiency in the amount of folic acid intake during pregnancy also contributes to SB defects in the child.

The intake of food that is rich in folate, during pregnancy, decreases the chances of SB by 70% and it also reduces the severity of the defect...

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