Question

please type to be rated as well as answer every question. if every question isn’t answered not rate please help me out.

Part I

Renee and Karl have been married for six years, and have twoactive children, ages 2 and 5. The kids keep both parents busy, chasing the kids around and, recently, preparing the oldest child for kindergarten. In addition, both Renee and Karl work full time, so there isn’t a lot of free time to do things that areimportant to their health, like see the doctor for regular physicals. Both are healthy, so they haven’t been too worried.

Renee went for routine physical last week and had blood work drawn. (It had been three years since her last physical.) The doctor called during the day with some worrying results. After putting the kids to bed, Renee was ready to talk through the results with Karl. Karl, with a worried look on his face, asked what was up. Renee told him that her cholesterol levels were very high. In fact, her total cholesterol was 220. Her HDL was 20, and her LDL was 200. That information, combined with the fact that her father had passed away at a young age from a heart attack, worried the doctor…and Renee.

1. What are HDL and LDL?
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2. What is the normal role of cholesterol in the body? Do you need cholesterol? (Hint: Remember cell membranes.)
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3. What are the health consequences of high cholesterol?
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4. What could be causing Renee’s high cholesterol levels? Describe at least three possible contributing factors.
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Part II

Renee’s meeting with the doctor went well. He told her that although her cholesterol was currently high, it could be managed. However, the doctor was concerned that her high cholesterol could be familial hypercholesterolemia, a type of inherited disorder that leads to high cholesterol. After prescribing statins and counseling Renee on some lifestyle changes, the doctor referred Renee to a genetic counselor. Renee and Karl were both a mixture of relieved that the disease could be managed, and concerned that it might be genetic.

1. What are statins? How do they function?
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2. What is the inheritance pattern of familial hypercholesterolemia? Remember to cite your sourcesusing APA Style.
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3. If Renee has familial hypercholesterolemia, what is/are her possible genotype(s)?
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4. Why might Renee and Karl be concerned that Renee’s hypercholesterolemia might be genetic?

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Part III

Renee met with the genetic counselor, Guillermo. Guillermo explained that they would first construct a pedigree. He asked Renee to list all her blood family members back to her grandparents, and for each person mark whether he or she had had a myocardial infarction (i.e., heart attack) before 50 and/or high cholesterol.

1. Below is the information Renee listed. Use this to construct a pedigree. Any person with a heart attack before 50 and/or high cholesterol is considered affected.

Renee (self), High cholesterol

Sister, No history of either

Brother, High cholesterol

Father, Myocardial infarction at 45, died

Mother, No history of either

Maternal aunt, No history of either

Paternal uncle, High cholesterol

Paternal grandmother, High cholesterol and myocardial infarction at 49, 55, died

Paternal grandfather, No history of either

Maternal grandmother, No history of either

Maternal grandfather, High cholesterol

2. Based on the pedigree above and your knowledge of genetics, do you think Renee has an inherited form of hypercholesterolemia? Please support your answer.
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3. If not genetic, is there another explanation for the prevalence of myocardial infarctions and high cholesterol in this pedigree? Please explain.
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Part IV

Based on the pedigree, the genetic counselor thinks that Renee might have familial hypercholesterolemia. He explains that there is a genetic test for the most common form of the disorder, which is a mutation in the LDLR gene, or low-density lipoprotein receptor gene. This leads to a nonfunctional receptorand LDL not being removed from the blood, which causes high cholesterol. He briefly explains the risks and benefits of testing. “On the legal side, currently, health insurers cannot discriminate against you or charge you higher rates if you test positive. However, life insurers can. It might benefit you to sign up before testing if you do not already have coverage. This also has implications for your family members, including your children. As an autosomal dominant disorder…”

1. Complete the genetic counselor’s explanation of the effects the knowledge might have on Renee and Karl’s children. Include an explanation of autosomal dominant inheritance.
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2. Would you have the genetic test done? There is no right or wrong answer to this question, just a well-supported one. Please include at least one resource that you’ve found on the benefits and risks of genetic testing. Cite your source using APA Style.
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Part V

Renee decides to have the LDLR genetic test done. The results are positive for one copy of the mutated LDLR gene.

1. What is Renee’s genotype?
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2. What is Renee’s phenotype?
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3. What is the probability that either of her children has familial hypercholesterolemia?
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4. If Renee and Karl adopted a child, would that child be at increased risk for familial hypercholesterolemia based on Renee’s results? Please explain.
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please type to be graded as well as answer every question. if every question isn’t answered not rate please help me out.

ITS DUE TONIGHT AT 11:59pm please answer soon 7/30/19 3:13pm

Answer 1

Part I

1) HDL and LDL stands for high density lipoprotein and low density lipoprotein respectively.

2) Cholesterol is an essential component of biomembranes like plasma membrane which allows differential movement of molecules into and out of the cells. Cholesterol is also needed for the synthesis of various hormones and vitamin D. It is an essential component of myelin sheath. Adipose tissues act as insulators of body parts. Therefore, cholesterol is essential for the normal functioning of body.

3) High cholesterol leads to atherosclerosis of blood vessels. It may lead to ischaemic heart disease and stroke. Excess amount of adipose tissuescalso contribute to insulin resistance and type 2 diabetes mellitus.

4) High cholesterol levels in Renne could be because of following reasons,

1. Genetics and family history of high cholesterol
2. Improper diet
3. Lack of physical activity

Please post other questions separately.