The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID). Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

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Answer 1

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Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

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A sample of blood was taken from the above individual and prepared for haemoglobin analysis. However, when water was added the cells did not lyse and looked normal in size and shape. The technician suspected that they had may have made an error in the protocol – what is the most likely explanation? The cell membranes are more resistant than normal. An isotonic solution had been added instead of water. A solution of 0.1 M NaCl had been added instead of water. Not enough water had been added to the red blood cell pellet. The man had sickle-cell anaemia.

With reference to their absorption spectra of the oxy haemoglobin intact line) and deoxyhemoglobin (broken line) shown in Figure 2 below, how would you best explain the reason why there are differences in the major peaks of the spectra? Figure 2. SPECTRA OF OXYGENATED AND DEOXYGENATED HAEMOGLOBIN OBTAINED WITH THE RECORDING SPECTROPHOTOMETER 1.4 Abs < 0.8 06 0.4 400 420 440 460 480 500 520 540 560 580 600 nm 1. The difference in the spectra is due to a pH change in the deoxy-haemoglobin due to uptake of CO2- 2. There is more oxygen-carrying plasma in the oxy-haemoglobin sample. 3. The change in Mr due to oxygen binding causes the oxy haemoglobin to have a higher absorbance peak. 4. Oxy-haemoglobin is contaminated by carbaminohemoglobin, and therefore has a higher absorbance peak 5. Oxy-haemoglobin absorbs more light of blue wavelengths and less of red wavelengths than deoxy-haemoglobin

Answer 2

Question

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

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Answer 3

Question

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

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Answer 4

Question

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

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Answer 5

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

Answer 6

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

Answer 7

Chapter 17, Problem 1CS

Summary Introduction

To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).

Introduction: Mr. and Mrs. J were referred to 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 has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.

Answer 8

Expert Solution & Answer

Explanation of Solution

According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.

Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.

Answer 9

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Answer 10

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Answer 11

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