In a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver. 1) Is this a single gene inheritance or multifactorial disease? 2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.
In a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver. 1) Is this a single gene inheritance or multifactorial disease? 2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
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In a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver.
1) Is this a single gene inheritance or multifactorial disease?
2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.
Expert Solution
Introduction:
- An alteration in the ornithine transcarbamylase (OTC) gene results in the genetic disorder known as OTC deficiency.
- This gene encodes instructions for the production of a critical enzyme in the liver that is responsible for the breakdown of a waste product known as ammonia.
- If this enzyme fails to function properly, ammonia can build up in the body, causing a variety of symptoms such as intellectual disability, behavioural issues, and developmental delays.
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