What is 5-Alpha Reductase 2 defincency Display keyboard shortcuts for Rich Content Editor What is 5-Alpha Reductase 2 Deficie 12pt Paragraph

What is 5-Alpha Reductase 2 defincency
Display keyboard shortcuts for Rich Content Editor
What is 5-Alpha Reductase 2 Deficie
12pt
Paragraph
Question at position 2
2
3 points
Question 2 is unpinned. Click to pin.
Question at position 2
Why does an XY individual with 5αRD develop testes but fail to develop external male genitalia?
Display keyboard shortcuts for Rich Content Editor
Why does an XY individual with 5αRD develop testes but fail to develop external male genitalia?
12pt
Paragraph
Question at position 3
3
2 points
Question 3 is unpinned. Click to pin.
Question at position 3
What signs/symptoms might you expect to see in an XX individual that is homozygous for the 5αRD mutation?
Display keyboard shortcuts for Rich Content Editor
What signs/symptoms might you expect to see in an XX individual that is homozygous for the 5αRD mutation?
12pt
Paragraph
Question at position 4
4
2 points
Question 4 is unpinned. Click to pin.
Question at position 4
What is the pattern of inheritance of 5-Alpha Reductase 2 Deficiency?
What is the pattern of inheritance of 5-Alpha Reductase 2 Deficiency?
X-linked recessive
X-linked dominant
autosomal recessive
autosomal dominant
maternal/mitochondrial
Y-linked
Question at position 5
5
2 points
Question 5 is unpinned. Click to pin.
Question at position 5
What is the likely genotype of individual V-8?
a = recessive allele
A = dominant allele
What is the likely genotype of individual V-8?
a = recessive allele
A = dominant allele
XaY
XAY
aa
Aa
AA
Question at position 6
6
2 points
Question 6 is unpinned. Click to pin.
Question at position 6
Is it possible for individual V-8 to have children? Support your answer with evidence from the scientists’ findings.
Display keyboard shortcuts for Rich Content Editor
Is it possible for individual V-8 to have children? Support your answer with evidence from the scientists’ findings.
12pt
Paragraph
Question at position 7
7
2 points
Question 7 is unpinned. Click to pin.
Question at position 7
Imagine that individual V-8 marries a female cousin who is a carrier of the 5αRD mutation. What is the probability that they will have a child who has the disorder?
Enter your answer as a fraction.
Question Blank 1 of 1
Stimulus for questions at positions: 8, 9
The following text applies to the questions at positions 8, 9
Hemophilia: The Royal Disease
Hemophilia is an X-linked recessive disorder characterized by the inability to properly form blood clots. Until recently, hemophilia was untreatable, and only a few hemophiliacs survived to reproductive age because any small cut or internal hemorrhaging after even a minor bruise were fatal. Now hemophilia is treated with blood transfusions and infusions of a blood derived substance known as antihemophilic factor. However, the treatment is very expensive and occasional problems can arise because of a patient’s allergic reactions or other transfer complications.
Hemophilia affects males much more frequently (1 in 10,000) than females (1 in 100,000,000). This occurs because a critical blood clotting gene is carried on the X chromosome. Since males only carry one X chromosome, if that is defective, hemophilia will immediately show up. An early death is likely. Females, on the other hand, carry two X chromosomes. If only one is defective, the other normal X chromosome can compensate. The woman will have normal blood clotting; she will simply be a carrier of the recessive defective gene. This fact will be discovered if some of her children are hemophiliacs. Naturally, women hemophiliacs are rare because it takes two defective X chromosomes in order for the condition to be seen.
Hemophilia has played an important role in Europe’s history, for it suddenly cropped up in the children of Great Britain’s Queen Victoria. It became known as the “Royal disease” because it spread to the royal families of Europe through Victoria’s descendants. Queen Victoria had always been worried about the quality of the blood of the British royal family. Her feelings about the necessity of revitalizing what she called the “lymphatic” blood of their houses are reflected in her letter to her daughter Vicky: “I do wish one could find some more black eyed Princes and Princesses for our children! I can’t help thinking what dear Papa said—that it was in fact when there was some little imperfection in the pure Royal descent that some fresh blood was infused… For that constant fair hair and blue eyes makes the blood so lymphatic… it is not as trivial as you may think, for darling Papa—often with vehemence said: ‘We must have some strong blood.'”
It is doubtful that at the time of writing this letter, the Queen knew exactly what was wrong with her family’s blood. Hemophilia first appeared in Victoria’s family in her eighth child, Prince Leopold, Duke of Albany. Throughout his short life, Leopold had suffered severe hemorrhages, and always was described as “very delicate.” Leading the life of a normal child was impossible for Leopold because any cut or bump could lead to death and it was necessary to keep him always under strict surveillance. However, in spite of all the protection, Prince Leopold died at the age of thirty- one as the result of a minor fall.
The appearance of hemophilia in one of Victoria’s sons upset and confused the Queen, who could only protest that the disease did not originate in her side of the family. Yet, a whisper about the “curse of the Coburgs” was spread about. This curse was supposed to have dated from the early nineteenth century, when a Coburg prince had married a Hungarian princess named Antoinette de Kohary. A monk, a member of the Kohary family, envied the wealth inherited by the happy couple from the bride’s father, and cursed future generations of Coburgs with the disease. Of course, hemophilia affecting Victoria’s offspring had nothing to do with the curse. The traditional view is that there was a mutation in either her or in a sperm of her father, Edward Augustus, Duke of Kent. From there it spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances. We can trace the appearance of hemophilia as it popped up in Spain, Russia, and Prussia by looking at the family tree.
Question at position 8
8
3 points
Question 8 is unpinned. Click to pin.
Question at position 8
What does it mean to say that hemophilia is an “X-linked recessive disorder?”
Display keyboard shortcuts for Rich Content Editor
What does it mean to say that hemophilia is an “X-linked recessive disorder?”
12pt
Paragraph
Question at position 9
9
2 points
Question 9 is unpinned. Click to pin.
Question at position 9
Is it possible to have a male that is heterozygous for an X-linked recessive disorder?
Is it possible to have a male that is heterozygous for an X-linked recessive disorder?
Yes
No
Possibly, depending on the specific disorder
Stimulus for questions at positions: 10, 11, 12, 13, 14, 15
The following text applies to the questions at positions 10, 11, 12, 13, 14, 15
Leopold’s Family
First, let’s take a look at Queen Victoria’s son Leopold’s family. His daughter, Alice of Athlone, had one hemophilic son (Rupert) and two other children—a boy and a girl—whose status is unknown.
Fortunately, Leopold was the only one of Victoria’s sons who suffered from hemophilia. Her other three sons, Edward, Alfred, and Arthur, were unaffected. Since the present royal family of England descended from Edward VII, the first son, it is free from hemophilia. Louise, Queen Victoria’s fourth daughter and sixth child, did not have children and her status as a carrier cannot be assessed. Vicky, the first child, and Helena, the fifth child, had children, none of whom was hemophilic, indicating that the mothers probably were not carriers.
Question at position 10
10
2 points
Question 10 is unpinned. Click to pin.
Question at position 10
Which of the following is Alice’s genotype?
Which of the following is Alice’s genotype?
XHXH
XHXh
XhXh
XHY
XhY
Question at position 11
11
2 points
Question 11 is unpinned. Click to pin.
Question at position 11
Which of the following is Alice’s husband’s genotype?
Which of the following is Alice’s husband’s genotype?
XHXH
XHXh
XhXh
XHY
XhY
Question at position 12
12
2 points
Question 12 is unpinned. Click to pin.
Question at position 12
What is the probability that Alice’s other son has hemophila?
What is the probability that Alice’s other son has hemophila?
0
1/4
1/2
3/4
1
Question at position 13
13
2 points
Question 13 is unpinned. Click to pin.
Question at position 13
What is the probability that Alice’s daughter is heterozygous for this trait?
What is the probability that Alice’s daughter is heterozygous for this trait?
0
1/4
1/2
3/4
1
Question at position 14
14
2 points
Question 14 is unpinned. Click to pin.
Question at position 14
What is the probability that both of Alice’s unknown children, the son and the daughter, have hemophilia?
What is the probability that both of Alice’s unknown children, the son and the daughter, have hemophilia?
0
1/2
1/4
1/8
1/16
Question at position 15
15
2 points
Question 15 is unpinned. Click to pin.
Question at position 15
If Alice and her husband had another child, what is the probability that the child would be a female who is a carrier?
If Alice and her husband had another child, what is the probability that the child would be a female who is a carrier?
0
1/4
1/2
3/4
1
Stimulus for questions at positions: 16, 17, 18, 19, 20
The following text applies to the questions at positions 16, 17, 18, 19, 20
Beatrice’s Family Pedigree
Now for the Spanish connection: Victoria’s youngest child, Beatrice, gave birth to one daughter, one normal son, and two hemophilic sons.
Question at position 16
16
2 points
Question 16 is unpinned. Click to pin.
Question at position 16
Which parent did Leopold and Maurice inherit hemophilia from?
Which parent did Leopold and Maurice inherit hemophilia from?
Beatrice
Henry
Not enough info to tell
Question at position 17
17
2 points
Question 17 is unpinned. Click to pin.
Question at position 17
Which parent did Eugenie inherit hemophilia from?
Which parent did Eugenie inherit hemophilia from?
Beatrice
Henry
Not enough info to tell
Question at position 18
18
2 points
Question 18 is unpinned. Click to pin.
Question at position 18
Assume that not all carriers are shaded in on the pedigree. Is it possible Eugenie’s daughters could be carriers? Why or Why not?
Display keyboard shortcuts for Rich Content Editor
Assume that not all carriers are shaded in on the pedigree. Is it possible Eugenie’s daughters could be carriers? Why or Why not?
12pt
Paragraph
Question at position 19
19
3 points
Question 19 is unpinned. Click to pin.
Question at position 19
Assume that we do not have any information about whether Juan Carlos of Spain had hemophilia. Based on the pedigree, would you predict that he most likely has hemophilia, is a carrier, or he does not carry the hemophilia allele? Justify your answer.
Display keyboard shortcuts for Rich Content Editor
Assume that we do not have any information about whether Juan Carlos of Spain had hemophilia. Based on the pedigree, would you predict that he most likely has hemophilia, is a carrier, or he does not carry the hemophilia allele? Justify your answer.
12pt
Paragraph
Question at position 20
20
2 points
Question 20 is unpinned. Click to pin.
Question at position 20
Which of the following genotypes does Juan Carlos most likely have?
Which of the following genotypes does Juan Carlos most likely have?
XHXH
XHXh
XhXh
XHY
XhY
Stimulus for questions at positions: 21, 22, 23
The following text applies to the questions at positions 21, 22, 23
Alice’s Family Pedigree
Queen Victoria’s third child, Alice, passed hemophilia to the German and Russian imperial families. Of Alice’s six children, three were afflicted with hemophilia. At the age of three, her son Frederick bled for three agonizing days from a cut on the ear. Eventually, the flow of blood was stanched. But a few months later, while playing boisterously in his mother’s room, the boy charged headlong through an open window and fell to the terrace below. By the evening he was dead from the internal bleeding.
Alice’s daughter Irene, a carrier, married her first cousin, Prince Henry of Prussia, and gave birth to two hemophilic sons. Every attempt was made to conceal the fact that the dreaded disease had shown itself in the German imperial family, but, at the age of four, Waldemar, the youngest of the princes, bled to death. The other prince, Henry, died at the age of fifty-six.
Alice’s other daughter, Alix, was also a carrier. Had she accepted the offer of marriage from Prince Eddy, or his brother George, hemophilia would have been re-introduced into the reigning branch of the British royal family. But Alexandra (Alix) married Tsar Nikolas II instead and carried the disease into the Russian imperial family. She had four daughters, Olga, Tatiana, Marie, and Anastasia, before giving birth to the long-awaited son, Alexis, heir to the Russian throne. These children, along with their parents, were eventually murdered during the Russian Revolution.
Within a few months of his birth, his parents realized that their precious and only son, Alexis, had hemophilia. The first sign had been some unexpected bleeding from the navel, which had stopped after a few days. Much more serious, however, were the dark swellings that appeared each time the child bumped an arm or a leg. And worst of all was the bleeding into the joints. This meant a crippling of the affected limbs in addition to excruciating pain. As the boy grew older, he was obliged to spend weeks in bed, and after he was up, to wear a heavy iron brace.
Neither well-experienced doctors nor numerous prayers to God by desperate parents seemed to help the suffering child. Distressed over their son’s condition, his parents, the Tsar and Tsarina, turned to the monk Rasputin, a spiritualist who claimed he could help Alexis. Rasputin received an unlimited trust from Alexandra because he was the only person who was able to relieve her son’s sufferings. How he managed to do this is uncertain. “A likely explanation is that Rasputin, with his hypnotic eyes and his self-confident presence, was able to create the aura of tranquillity necessary to slow the flow of blood through the boys veins. Where the demented mother and the dithering doctors merely increased the tenseness of the atmosphere around the suffering child, Rasputin calmed him and sent him to sleep.” While Tsar and Tsarina were preoccupied with the health of their son, the affairs of state deteriorated, culminating in the Russian revolution. Alexis did not die from hemophilia. At the age of fourteen he was executed with the rest of the family. His four oldest sisters were also young and didn’t have children, so we don’t know whether any of them was a carrier. But we can make an estimate.
Question at position 21
21
2 points
Question 21 is unpinned. Click to pin.
Question at position 21
Determine the probability that the four sisters, Olga, Tatiana, Maria, and Anastasia are ALL carriers.
Enter your answer as a fraction.
Question Blank 1 of 1
Question at position 22
22
2 points
Question 22 is unpinned. Click to pin.
Question at position 22
Determine the probability that three of the sisters are carriers and one of them is homozygous dominant.
Enter your answer as a fraction.
Question Blank 1 of 1
Question at position 23
23
2 points
Question 23 is unpinned. Click to pin.
Question at position 23
Imagine that Alexis was not executed and he lived long enough to marry and have children. He marries a wife that is a carrier of the hemophilia allele. What is the likelihood that they have a son and daughter who BOTH have hemophilia?
Question Blank 1 of 1

Collepals.com Plagiarism Free Papers

Are you looking for custom essay writing service or even dissertation writing services? Just request for our write my paper service, and we'll match you with the best essay writer in your subject! With an exceptional team of professional academic experts in a wide range of subjects, we can guarantee you an unrivaled quality of custom-written papers.

Get ZERO PLAGIARISM, HUMAN WRITTEN ESSAYS

Why Hire Collepals.com writers to do your paper?

Quality- We are experienced and have access to ample research materials.

We write plagiarism Free Content

Confidential- We never share or sell your personal information to third parties.

Support-Chat with us today! We are always waiting to answer all your questions.