Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene on the human X chromosome. The patients have muscles that weaken over time because they have absent or decreased dystrophin, a muscle protein. They rarely live past their 20s. How likely is it for a women to have this condition?
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Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene on the human X chromosome. The patients have muscles that weaken over time because they have absent or decreased dystrophin, a muscle protein. They rarely live past their 20s. How likely is it for a women to have this condition?
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- Achondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast growth factor receptor 3 gene ( FGFR3) that produces an overactive protein. Having one copy of the mutant allele results in dwarfism. Two copies of the mutant allele results in death before birth. If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child together, what is the probability that their child will Achondroplasia AND be a Sickle Cell Anemia carrier? ½ 2/3 ¼ 1 ½ 1/16Duchenne muscular dystrophy is sex linked and usually affects only males. Victims of the disease become progressively weaker, starting early in life.a. What is the probability that a woman whose brother has Duchenne’s disease will have an affected child?b. If your mother’s brother (your uncle) had Duchenne’s disease, what is the probability that you have received the allele?c. If your father’s brother had the disease, what is the probability that you have received the allele?Duchenne muscular dystrophy is sex linked and usuallyaffects only males. Victims of the disease become progressively weaker, starting early in life.a. What is the probability that a woman whose brotherhas Duchenne’s disease will have an affected child?b. If your mother’s brother (your uncle) had Duchenne’sdisease, what is the probability that you have receivedthe allele?c. If your father’s brother had the disease, what is theprobability that you have received the allele?
- A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells.A couple has one daughter with Tay-Sachs disease and three other unaffected children. Neither the mother, nor father, nor any of the biological grandparents of the affected daughter have had the disease. Tay-Sachs disease most likely demonstrates what type of inheritance? Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is Select one: a. II-1 II-2 III-1 Aa Aa aa b. II-1 II-2 III-1 XAY XAXa XAXa c. II-1 II-2 III-1…A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells.A couple has one daughter with Tay-Sachs disease and three other unaffected children. Neither the mother, nor father, nor any of the biological grandparents of the affected daughter have had the disease. Tay-Sachs disease most likely demonstrates what type of inheritance? Select one: a. autosomal dominant b. X-linked recessive c. X-linked dominant d. autosomal recessiveA couple has one child with bilateral retinoblastoma. The mother is free from cancer, but the father has unilateral retinoblastoma and he has a brother who has bilateral retinoblastoma. a. If the couple has another child, what is the probability that this next child will have retinoblastoma? b. If the next child has retinoblastoma, is it likely to be bilateral or unilateral? c. Explain why the father’s case of retinoblastoma is unilateral, whereas his son’s and brother’s cases are bilateral.
- Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. A young couple, Bart and Jenny, are expecting a child and are aware there might be a chance that their child could be affected by this disorder. Jenny (the wife) has ichthyosis, but Bart (her husband) is unaffected and completely normal with respect to the allele responsible for this disorder. Both Bart and Jenny were Biology majors as undergraduates. Knowing a little about the pattern of X-linked recessive inheritance, Bart and Jenny were concerned when ultrasound revealed that they would be having a son. However, genetic testing performed on the baby shortly after birth revealed that their newborn son, Mark, did not…Sickle Cell Anemia is caused by an abnormal form of haemoglobin, the part of the red blood cell that carries oxygen around the body. The red blood cells become stiff and block blood vessels, causing pain and damage and quickly destroying blood cells, leading to anemia. It is estimated that approximately 1 in 32 000 people in Canada are affected with sickle cell anemia.The disorder occurs when a person inherits two recessive genes for the condition. What are the frequencies of the recessive disease allele and the dominant normal allele in the population's gene pool? Select one: a. Recessive Allele Dominant Allele 0.559% 99.4% b. Recessive Allele Dominant Allele 5.59% 94.4% c. Recessive Allele Dominant Allele 0.313% 99.7% d. Recessive Allele Dominant Allele 0.00313% 99.9%
- Sickle-cell disease (often called sickle-cell anemia) is a disease that is caused by a mutation to the gene that is responsible for producing the protein hemoglobin. Remember that hemoglobin is a protein in the red blood cells which is responsible for carrying oxygen throughout the body. When a person possesses the mutated hemoglobin allele, their red blood cells take on an altered shape and this results in a variety of symptoms ranging from general weakening of the body, damage to the organs and even death. The sickle cell allele is recessive to the healthy allele, thus only individuals that are homozygous for the recessive allele will have sickle-cell disease. Individuals that are homozygous for the healthy allele, along with heterozygous, individuals will be physically healthy. Question: Given that this mutated allele will cause disease and death in individuals, what would you predict to occur to the frequency of this allele in the population? Explain.A woman who is eight (8) weeks pregnant requests a direct test for Huntington’s disease on her fetus. She tells her geneticist that she wants the test because she recently discovered that there is a family history of the disease in her husband’s family. One of his parents is affected so he is at 50% risk of developing the condition. She is adamant that she does not want to give birth to a baby who is at risk of developing Huntington’s and says that the test will help her to ensure that this is not the case. In counseling, she reveals that she has discussed this issue several times with her husband but he has always said he is not willing to take a test. He does not want to know his status and is extremely anxious about the possibility that he might develop the condition. The woman and her husband are currently separated but are seeing a relationship counselor and trying to work things out. Despite this, the woman says they tend to fight a lot. When it is explained to her in counseling…Cystic fibrosis is an autosomal recessive disorder caused by a defective gene that causes a thick buildup of mucus in and around the lungs. The increased mucous makes it very difficult to breathe. The mucus also traps bacteria in the lungs which can lead to upper respiratory infections and lung damage. People who have cystic fibrosis will die if not treated. For a person to have cystic fibrosis they must inherit the defective gene from both parents. Alice and Matt are both heterozygous for cystic fibrosis. They want to have children but are concerned they might each pass the defective gene to their children. What is the probability their first-born child will have cystic fibrosis? There is a 0% chance their child will be born with cystic fibrosis. There is a 25% chance their child will be born with cystic fibrosis. There is a 50% chance their child will be born with cystic fibrosis. There is a 100% chance their child will be born with cystic fibrosis.