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Name: What is the role of imprinting in human genetic disorders?\Select the
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Description: What is the role of imprinting in human genetic disorders?\Select the two correct answers.Imprinting defects cause myelodysplastic syndrome.Imprinting is a process that leads to human genetic disorders.Imprinting defects cause Prader-Willi syndrome,

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Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter15: Genomes And Genomics

Section: Chapter Questions

Problem 12QP: One unexpected result of the sequencing of the human genome was the finding that mutations in a...

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Trait: NeurofibromatosisThe dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness. Some tumors can convert to a cancerous form.The recessive form is a normal protein - in other words, no neurofibromatosis. Situation:Karina wants to know from whom she got her disorder. Her grandmother Ana has neurofibromatosis. Ana marries Angelo, who does not have the disease. They both have children named Christine (eldest), Monica, Joseph, Marco, and Yna (youngest). Monica, Marco, and Yna have the disorder out of the five children. Christine marries a man with the disorder, and they have two daughters, Kadita and Karina, who both have the disorder, and another daughter, Karrie, who does not have neurofibromatosis. Yna, on the other hand, marries a man with the disorder. They have four children,…
How can you use this piece of information to help you explain to your friends what is the significance of mutations in the emergence of new genetic properties (alleles) that may result (or not) in new phenotypic characteristics? (Recall that not all SNPs affect phenotype.)
Fragile X syndrome why is interesting Fragile X syndrome What are the symptoms or characteristics of this disorder or trait? What is the prevalence of the trait or disorder? What are the main genetic factors? s the genetic cause of this disorder or trait known? What gene(s) have been proven to be involved? Or, if not known, what genes are thought to be involved? Is it caused by a single gene? polygenic? Multifactorial? Devote a few paragraphs to this This could be one of the longest parts of the paper, if you choose to focus on this. If multiple genes are thought to be involved, discuss the specific role of at least one of them in depth (if known). Is the gene you’re discussing thought to play a major or a minor role in the phenotype? What chromosome is it on? What protein does it code for, and how might the protein possibly contribute to the phenotype? If no genes have yet been identified, indicate this, and devote at least one paragraph to any current efforts to determine which…
Which of the following statements describes an example of a phenocopy? Explain your reasoning. a. Phenylketonuria results from a recessive mutation that causes light skin as well as intellectual disability. b. Human height is influenced by genes at many different loci. c. Dwarf plants and mottled leaves in tomatoes are caused by separate genes that are linked. d. Vestigial wings in Drosophila are produced by a recessive mutation. This trait is also produced by high temperature during development. e. Intelligence in humans is influenced by both genetic and environmental factors.
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
Imagine that you caught a female albino mouse inyour kitchen and decided to keep it for a pet. A fewmonths later, while vacationing in Guam, you caughta male albino mouse and decided to take it home forsome interesting genetic experiments. You wonderwhether the two mice are both albino due to mutations in the same gene. What could you do to find outthe answer to this question? Assume that both mutations are recessive.
Sex-specific imprinting distinguishes male and female genomes and is inherited in a parent-of-origin-specific manner. Such imprints are established in the germline during gametogenesis and remain intact throughout embryonic and postnatal development. Access the Imprinted Gene Catalogue website https://www.geneimprint.com/Links to an external site.. Click on “Search by Species Name” and then click on “Human.” Find 4 disorders that involve imprinting: 2 transmitted from the mother and 2 from the father, and use OMIM to describe the phenotypes (you may include images of phenotypes) and explain their underlying cause(s). Paternal Imprint Maternal Imprint 1 2 Include reference
Our understanding of maternal effect genes has been greatly aided by their identification in experimental organisms such as Drosophila melanogaster and Caenorhabditis elegans. In experimental organisms with a short generation time, geneticists have successfully searched for mutant alleles that prevent the normal process of embryonic development. In many cases, the offspring die at early embryonic or larval stages. These are called maternal effect lethal alleles. How would a researcher identify a mutation that produced a recessive maternal effect lethal allele?
1.B Which of the following processes takes place in the cytoplasm? - DNA replication - transcription -intron removal -translation -primary mRNA splicing 1.C For a DNA strand that is two nucleotides long, how many different sequences are possible? -2 -4 -8 -16 -64 1.D Which of the following is mismatched? A)physical expression of a trait - phenotype B)allele that masks the expression of an alternate allele - dominant C)identical alleles - heterozygous D)allele whose expression can be masked by an alternate allele recessive E)the specific alleles that an individual has - genotype
Phenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?
DNA sequencing of your own two β-globin genes (one from each of your two Chromosome 11s) reveals a mutation in one of the genes. given this information alone, should you worry about being a carrier of an inherited disease that could be passed on to your children? What other information would you like to have to assess your risk?