CH 2200 Lecture 55: Chinese common phrases 86

1.A female drophilia fly heterozygous for the traits sh and be was mated to a heterozygous male with sh and be. both taits are recessive. 800 progeny were scored with the phenotypes: wild type head, wildtype eyea 380 sh, wildtype eyea 35 sh, be. 340 wild type head, big eyes 45 A.what do these results tell about. sh and be genes? B.identify the recombinant phenotypes in progeny C.estimate then map distance between the two genes. show calculations.

2.An achondroplastic male dwarf with normal vision marries a color-blind woman of normal height. The man's father was six-feet tall, and both the woman's parents were of average height. Achondroplastic dwarfism is autosomal dominant, and red-green color blindness is X-linked recessive.

What are the genotypes of:

The male dwarf:

His wife:

How many of their daughters might be expected to be color-blind dwarfs?

How many of their sons would be color-blind and of normal height?

Please help answer 4 questions:

1. Using the information provided thus far by both Parts I and II, answer the following questions.

What problems both stated and unstated does Phyllis seem to be experiencing? What pieces of background information (patient environment and social/family history) have been provided by the family?

2. Distinguish between the relevant and non relevant symptoms/lab results needed to form a diagnosis. Of the relevant symptoms/lab results, rank them in priority and defend your answer.

3. Given what you know about the role of myelin in action potential propagation and the key information previously identified in questions 1 and 2, explain why multiple sclerosis is the appropriate diagnosis.

4. Consider you are the physician, what would be your strategy to slow progression of the disease and compensate for reduced neuronal function? What is the long-term prognosis with treatment?

The Soccer Mom:

A Case Study on the Nervous System

by

Jennifer Bolognese, Misti Coronel, Anita Intorre, and

Phil Stephens Biology Department Villanova University

Part I—At the Soccer Game

Thirty-two-year-old Phyllis Jackson was sitting on the bench at the side of the soccer ?eld, sipping a bottle of

Gatorade. Her husband, Steven, sat next to her with a concerned expression. “I’m really worried about you, honey,” he said.

“I’m just a little dehydrated; I’ll be ?ne.”

“If this were the ?rst incident, then maybe I’d agree with you. But your boss has been on your case about your lack of concentration at work, you forgot to pick up the kids from school last week, and quite frankly, you haven’t exactly been yourself with me lately. Now you’re having fainting spells during games? Something doesn’t seem right.”

“I know things haven’t been going well for me lately, but I don’t know why. I try so hard at work, at home, with the kids, to be a good wife. So maybe all this stress has made me a little unfocused and disoriented. What do you want me to do about it?” Phyllis said, blinking back tears.

“I think you should see a doctor,” Steven replied, putting his arm around her and drawing her close. “The kids are getting worried, too.”

Phyllis sighed. “Alright, if it will make you feel better. I really just think I need some time to relax, though.” “Well… I could drop the kids of at my sister’s tonight; that would give us a little free time…”

“That’s really thoughtful of you. I could de?nitely use a quiet night at home, maybe even go to bed early.” Steven seemed disappointed.

Part II—The Doctor Visit

“So, what seems to be the problem, Mrs. Jackson?” Dr. Warner asked Phyllis.

“My husband wanted me to come in and see you after I fainted during my soccer game Saturday. I’ve also been having some problems at work, but I think I’m just stressed.”

“What kinds of problems have you been having at work?”

“It’s been hard to concentrate on tasks. I’ve also had some problems typing—I’ve been making more errors than usual, and oftentimes my ?ngers will go numb.”

“I see,” said Dr. Warner, taking a few notes on his clipboard. “According to my records you are not on any long term medication. Have you noticed any problems outside of work?”

“Well, my husband has been complaining about our personal life lately. And last week, I completely forgot that I was supposed to pick up our two daughters after school. I’ve been feeling really tired lately; even my coordination seems of.”

“How long has this been going on for?”

“A few weeks, but this isn’t the ?rst time. These problems seem to come and go, but it’s getting to the point where I can’t just ignore them anymore. I don’t know, maybe I’m just depressed.”

“Why do you say that?”

“My mother suffered from depression throughout my childhood.”

“Well, depression certainly could cause some of the symptoms you’re experiencing,” Dr. Warner said thoughtfully. “Is there a history in your family of any neurological disorders?” “I don’t think so. I have some vague recollection of my grandfather in a wheelchair when I was really young, but I don’t know what was wrong with him.”

“Okay,” said the doctor, nodding. “Well, the few preliminary tests we’ve run show that you are not pregnant, and that you are not going through menopause. I’d like to send you to see Dr. Thrush, a friend and colleague of mine. She is a neurologist at the local hospital and she will run a few tests to explore your symptoms a little further.”

Questions: Analyze

1. Using the information provided thus far by both Parts I and II, answer the following questions.

What problems both stated and unstated does Phyllis seem to be experiencing? What pieces of background information (patient environment and social/family history) have been provided by the family?

Part III—Diagnostic Tests

Dr. Thrush looked over the results of Phyllis’s Magnetic Resonance Imaging (mri) and evoked potential tests. She was thinking how glad she was that Steven had accompanied Phyllis on this visit as she showed them the MR images of Phyllis’ brain.

“The machine took pictures of Phyllis’ brain in slices. The dark areas are the brain tissue, Phyllis, and the white areas in the middle and around the outside are the cerebrospinal ?uid.”

“Is that normal? Am I ok?” Phyllis asked. “And what are those little white dots in the tissue?”

“The white dots are what concerned me,” replied the doctor. “So we did another type of mri, called dark ?uid, so that your cerebrospinal ?uid would not show up white.”

“But I still see the white dots in my brain tissue. What does that mean?”

The doctor looked down, knowing that this was never an easy thing to tell a patient.

“I am afraid that this indicates that there are plaques or scars in your brain, and that you may have multiple sclerosis.”

Tears began to form in her eyes as Phyllis squeezed her husband’s hand.

“I am afraid that the evoked potential test and the elevated levels of myelin basic protein in you cerebrospinal ?uid indicate the same thing.”

Questions: Evaluate and Apply

2. Distinguish between the relevant and non relevant symptoms/lab results needed to form a diagnosis. Of the relevant symptoms/lab results, rank them in priority and defend your answer.

3. Given what you know about the role of myelin in action potential propagation and the key information previously identified in questions 1 and 2, explain why multiple sclerosis is the appropriate diagnosis.

Part IV—The Diagnosis

Dr. Thrush informed Phyllis that she was probably suffering from the relapsing-remitting form of multiple sclerosis (ms), in which relapses of symptoms are separated by periods of remission. ms is a disorder in which the myelination of axons is degraded due to unknown factors. The most commonly accepted explanation is that ms is an autoimmune disorder in which myelin in the central nervous system is attacked by the body’s own immune system. There is no known cure for multiple sclerosis. During remission, axons affected by the disorder regain their function. Voltage-gated sodium channels are concentrated in the nodes of Ranvier and the distribution changes at disease onset.

Questions: Create

4. Consider you are the physician, what would be your strategy to slow progression of the disease and compensate for reduced neuronal function? What is the long-term prognosis with treatment?

Thank you for your time with this

first noticed in newborns when the urine in their diapers turnsblack upon exposure to air. The condition is caused by thedefective transport of the amino acid phenylalanine through theintestinal walls during digestion. About 4 people per 1000 arecarriers of alkaptonuria.

Sara and James had never heard of alkaptonuria and were shocked todiscover that their first child had the condition. Sara's sisterMary and her husband Frank are planning to have a family and areconcerned about the possibility of alkaptonuria in one of theirchildren.
The four adults (Sara, James, Mary, and Frank) seek informationfrom a neighbor who is a retired physician.

After discussing their family histories, the neighbor says, "I never took genetics, but I knowfrom my many years in practice that Sara and James are bothcarriers of this recessive condition. Since their first child hadthe condition, there is a very low chance that the next child willalso have it, because the odds of having two children with arecessive condition are very low. Mary and Frank have no chance ofhaving a child with alkaptonuria because Frank has no familyhistory of the condition."

The two couples each have babies and both babies havealkaptonuria.

Part A

The neighbor was apparently incorrect in her assessment thatthere would be "no chance" of Mary and Frank having a child withalkaptonuria. Assume that before the birth of Mary andFrank's baby, you had been asked...

What would the probability be of Mary and Frank having a childwith alkaptonuria?

Enter your answer as a reduced fraction. For example: 1/2, not8/16 or 0.50

Part B

What is the chance that the third child of Sara and James willbe free of the condition?

Enter your answer as a reduced fraction. For example: 1/2, not8/16 or 0.50

Part C

Sara and James are now worried that one of theirgrandchildren will inherit alkaptonuria. What is thechance that the first child of their daughter with alkaptonuriawill be affected by alkaptonuria? Assume that their son-in-law hasno family history of alkaptonuria.

Enter your answer as a reduced fraction. For example: 1/2, not8/16 or 0.50.