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The Joneses were referred to a clinical geneticist because their 6-month-old daughter was failing to grow adequately and was having recurrent infections. The geneticist took a detailed family history (which was uninformative) and a medical history of their daughter. He discovered that their daughter had a history of a constant cough and wheeze that was becoming progressively worse, had difficulty gaining weight (failure to thrive), and had an extensive history of yeast infection (thrush) in her mouth. The geneticist did a simple blood test to check their daughter’s white blood count and determined that she had severe combined immunodeficiency (SCID). The geneticist explained that SCID is an immune deficiency that causes a marked susceptibility to infections. The defining characteristic is usually a severe defect in both the T- and B-lymphocyte systems. This results in one or more infections within the first few months of life that are serious and may even be life-threatening. Based on the family history, it was possible that their daughter had inherited a mutant allele from each of them and therefore was homozygous for a gene that causes SCID. If so, each time the Joneses had a child, there would be a 25% chance that the child would have SCID. Prenatal testing is available to determine whether the developing fetus has SCID. If the Joneses want to be certain that their next child will not have SCID, what types of reproductive options do you think they have?

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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 17, Problem 2CS
Textbook Problem
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The Joneses were referred to a clinical geneticist because their 6-month-old daughter was failing to grow adequately and was having recurrent infections. The geneticist took a detailed family history (which was uninformative) and a medical history of their daughter. He discovered that their daughter had a history of a constant cough and wheeze that was becoming progressively worse, had difficulty gaining weight (failure to thrive), and had an extensive history of yeast infection (thrush) in her mouth. The geneticist did a simple blood test to check their daughter’s white blood count and determined that she had severe combined immunodeficiency (SCID).

The geneticist explained that SCID is an immune deficiency that causes a marked susceptibility to infections. The defining characteristic is usually a severe defect in both the T- and B-lymphocyte systems. This results in one or more infections within the first few months of life that are serious and may even be life-threatening. Based on the family history, it was possible that their daughter had inherited a mutant allele from each of them and therefore was homozygous for a gene that causes SCID. If so, each time the Joneses had a child, there would be a 25% chance that the child would have SCID. Prenatal testing is available to determine whether the developing fetus has SCID.

If the Joneses want to be certain that their next child will not have SCID, what types of reproductive options do you think they have?

Summary Introduction

To determine: The kind of reproductive options that must be chosen by the parents to avoid the inheritance of SCID (Severe combined immunodeficiency disease).

Introduction: The Joneses were referred to as a clinical geneticist because their 6-month-old daughter was not growing appropriately. After the examination, the doctor observed that their daughter had a constant cough, wheeze, and extensive yeast infection. The doctor also took a blood test and determined that their daughter was suffering from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Explanation of Solution

The SCID is an X-linked recessive trait. If both the parents have this trait, then there is a 25% chance to have a diseased child. According to the case study, if the Joneses wish to have disease-free next child, then germline gene therapy is the best option. In the germline therapy, the mutant allele for SCID would be replaced by normal allele in the parents...

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