Canavan Disease Canavan disease is an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase, resulting in an incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience a lack of motor development, abnormal muscle tone, and difficulty feeding. Most individuals affected by this disease die before age 10. In a particular population in Canada, researchers examined 1850 people for Canavan disease and found that 10 of them had the disorder. 1. What is the frequency of Canavan disease in the population examined by the researchers? 2. How many individuals are unaffected carriers of the disease?

Canavan Disease Canavan disease is an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase, resulting in an incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience a lack of motor development, abnormal muscle tone, and difficulty feeding. Most individuals affected by this disease die before age 10. In a particular population in Canada, researchers examined 1850 people for Canavan disease and found that 10 of them had the disorder. 1. What is the frequency of Canavan disease in the population examined by the researchers? 2. How many individuals are unaffected carriers of the disease?

Name: Canavan Disease Canavan disease is an autosomal recessive disorder cau
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Description: Canavan Disease Canavan disease is an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase, resulting in an incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 25QP: Albinism is caused by an autosomal recessive allele of a single gene. An albino child is born to...

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Canavan Disease Canavan disease in an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase resulting in incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience lack of motor development, abnormal muscle tone, and difficulty feeding. Most individuals affected by this disease die before the age of 10. In a particular population in Canada, researchers examined 250 people for Canavan disease and found that 45 of them had the disorder. a) What is the frequency of Canavan disease in the population examined by the researchers? Show all your work. Express your answer as a value between 0 and 1 rounded to two decimal places. b) What is the frequency of the Canavan disease carriers in the population examined by the researchers? Show all your work. Express your answer as a value between 0 and 1 rounded to two decimal places.
Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is found amongst Ashkenazi Jews of Central European origin. In this population, 2 in 4,900 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease? ALL WORKING MUST BE SHOWN
Refsum disease is a genetic disorder that is inherited in an autosomal recessive pattern. Individuals with adult Refsum disease do not have the enzyme to breakdown phytanic acid. As a result, phytanic acid accumulates in the brain, blood, and body tissues. As the disease progresses, individuals with Refsum disease experience loss of vision, hearing, and sense of smell, as well as balance and coordination problems.In a population, the frequency of the recessive allele for Refsum disease is 0.28. What is the expected frequency of the carriers in this population? Show all your work. Record your answer as a value between 0 and 1 rounded to two decimal places.
Normally when a person consumes a product that contains lactose (such as milk or cheese), the body breaks the sugar lactose down into galactose and glucose. Galactosemia is disorder caused by a missing or defective enzyme which ends up causing galactose to accumulate to poisonous and sometimes deadly levels. Galactosemia is a recessive disorder. If two individuals are heterozygous for this trait, what is the probability that their children WILL HAVE galactosemia? 25% 50% 75% 100%
Phenylketonuria (PKU) is an autosomal recessive disease in which individuals with PKU cannot metabolize phenylalanine. A diet rich in phenylalanine can result in severe mental retardation if not caught early and the ingestion of the amino acid avoided. The occurrence of new alleles causing PKU in a Korean population that has PKU is 4 out of 33 and the frequency of the disease is 1 in 10,000 in the general population (Lee et al. 2008). What is the mutation rate of PKU in this population? a. 0.12 b. 7.25 x 10-7 c. 0.01 d. 6.8 x 10-4
A form of learning disabilities and speech impairment results from a recessive mutation in the HERC2 gene. The next 4 questions are about this mutation. In a small Amish village in Ohio, about 5 per 1000 births are affected with this disorder. Assume Hardy Weinberg equilibrium. What is the frequency of the dominant WT HERC2 allele in this small village? A form of learning disabilities and speech impairment results from a recessive mutation in the HERC2 gene. The next 4 questions are about this mutation. Part a: In a small Amish village in Ohio, about 5 per 1000 births are affected with this disorder. Assume Hardy Weinberg equilibrium. What is the frequency of the dominant WT HERC2 allele in this small village? a)0.005 b)0.995 c)0.07 d)0.93 Part b: What is the estimated total number of homozygous dominant individuals in this village of 1000 people? a) 70 b) 930 c) 860 d) 140
Refsum disease is a genetic disorder that is inherited in an autosomal recessive pattern. Individuals with adult Refsum disease do not have the enzyme to breakdown phytanic acid. As a result, phytanic acid accumulates in the brain, blood, and body tissues. As the disease progresses, individuals with Refsum disease experience loss of vision, hearing, and sense of smell, as well as balance and coordination problems.a) In a population, the frequency of the recessive allele for Refsum disease is 0.28. What is the expected frequency of the carriers in this population? Show all your work. Record your answer as a value between 0 and 1 rounded to two decimal places. b) What is the expected frequency of the homozygous dominant genotype for Refsum disease in this population? Show all your work. Record your answer as a value between 0 and 1 rounded to two decimal places.
The delta-32 mutation, a recessive gene, gives humans protection from HIV infection. The allele frequency in a town in Sweden is 20%. What percent of the population have two copies of the gene and are therefore immune to HIV? What percent of the population are less susceptible to the disease since they are heterozygous?
Tay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities leading to death in infants. Affected individuals are lacking the enzyme hexosaminidase, causing lipids to build up in the brain.The HEXA gene on chromosome 15 codes for hexosaminidase, and a four base pair insertion in the gene results in an altered reading frame and non-functional enzyme being produced. Individuals who are carriers (heterozygotes) of the Tay-Sachs allele are not affected by the disease but appear to have increased protection against tuberculosis.The incidence of Tay-Sachs disease is much higher among Ashkenazi Jews originating from Eastern Europe than the general population of the United States. About 1 in 3 500 babies of Ashkenazi Jewish heritage are born with Tay-Sachs disease and about 1 in 30 Ashkenazi Jews are carriers compared to about 1 in 320 000 babies born with the disease and about 1 in 300 carriers in the general United States population. Ashkenazi Jews living in…
Albinism is caused by an autosomal recessive allele of a single gene. An albino child is born to phenotypically normal parents. However, the paternal grandfather is albino. Exhaustive analysis suggests that neither the mother nor her ancestors carry the allele for albinism. Suggest a mechanism to explain this situation.
In humans, there is a gene called sickle-cell anemia, which produces severe anemia when homozygous recessive. The name of the disease comes from the fact that many red blood cells take on abnormal sickle shape. People homozygous recessive for this trait usually die before adulthood. Heterozygous people appear normal, but when a sample of the blood is held under low oxygen concentration, the red cells take on the sickle shape. A young woman about to be married is concerned about her future children because her brother died of sickle-cell anemia. A sample of her blood sickles under low oxygen concentration, but that red blood of her perspective husband remains normal. What can you say about the woman and the man, and about their future children? HINT: Use Punnett square to help you and receive full credit
In humans, there is a gene called sickle-cell anemia, which produces severe anemia when homozygous recessive. The name of the disease comes from the fact that many red blood cells take on abnormal sickle shape. People homozygous recessive for this trait usually die before adulthood. Heterozygous people appear normal, but when a sample of the blood is held under low oxygen concentration, the red cells take on the sickle shape. A young woman about to be married is concerned about her future children because her brother died of sickle-cell anemia. A sample of her blood sickles under low oxygen concentration, but that red blood of her perspective husband remains normal. What can you say about the woman and the man, and about their future children?