Patients with Down syndrome have three copies of chromosome 21, resulting in characteristics like a small head with a flat face and small ears, a short neck, a bulging tongue, upward slant eyes, and impaired development of the nervous system. Why does a patient with Down syndrome have these characteristics? O due to reduced expression of genes resulting from missing genetic information O due to the overproduction of proteins resulting from extra genetic information O due to the abnormal multiplication of cells caused by environmental factors O due to mutations in the cells of the patient caused by environmental factors
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Mutation will causes changes in the genetic composition of an organism. In case of aneuploidy the chromosome number will be changed but this change do not occurs for the entire set of chromosomes.
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- When the DNA of a human cell becomes damaged, the p53 geneis activated. What is the general function of the p53 protein?Is it an enzyme, transcription factor, cell-cycle protein, orsomething else? Describe three ways in which the synthesisof the p53 protein affects cellular function. Why is it beneficialfor these three things to happen when a cell’s DNA hasbeen damaged?Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
- The following is true about epigenetic gene control: O epigenetic changes to the chromatin may result from childhood development epigenetic changes to the chromatin may result from chemicals in the environment O epigenetic changes to the chromatin may result in cancer O An example of a chromatin change is DNA methylation that prevents gene expression from that area of the DNAWhich types of mutations cause (1 word) a. Increase amount of genetic material in particular chromosome b increase amount of genetic material in all chromosomes c decreased amount of generic material in particular chromsomes d change to position of dna sequence in singular chromosome without changing the amount of genetic material e move dna from one chromosome to non homologous chromosomeLeber hereditary optic neuropathy (LHON) is a human disease that exhibits cytoplasmic inheritance. It is characterized by rapid loss of vision in both eyes, resulting from the death of cells in the optic nerve. A teen loses vision in both eyes and is later diagnosed with LHON. How did this individual most likely inherit the mutant DNA responsible for this condition? O A mitochondrial gene from the father O Any of these are possible O A nuclear gene from the mother O A mitochondrial gene from the mother O A nuclear gene from the father
- Like Hurler syndrome, Fabry disease involves an abnormal accumulationof substances within lysosomes. However, the lysosomesof individuals with Fabry disease show an abnormal accumulationof lipids. The defective enzyme is α-galactosidase A, which is alysosomal enzyme that functions in lipid metabolism. The enzymaticdefect causes cell damage, especially to the kidneys, heart,and eyes. The gene that encodes α-galactosidase A is found on theX chromosome. Let’s suppose a phenotypically unaffected coupleproduces two sons with Fabry disease and one phenotypicallyunaffected daughter. What is the probability that the daughter willhave an affected son?Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called collagen (type 3 A1). Collagenis found in the extracellular matrix that plays an important role inthe formation of skin, joints, and other connective tissues. Peoplewith Ehler-Danlos syndrome have extraordinarily flexible skin and very loose joints. The pedigree below contains several individualsaffected with this syndrome, shown with black symbols. Based onthis pedigree, does the syndrome appear to follow autosomalrecessive, autosomal dominant, X-linked recessive, or X-linkeddominant inheritance? Explain your reasoning.
- In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?Researchers have successfully used gene therapy toameliorate some human genetic diseases by adding anormal gene copy to cells whose genomes originallyhad only nonfunctional mutant copies of that gene.For example, a form of blindness due to the lack of asingle protein called RPE65 has been reversed byintroduction of a normal RPE65 gene to cells of theretina of adults.a. The success of this gene therapy approach providesus with clues about the role of the RPE65 proteinin the retina. Do you think that RPE65 is neededfor the proper development of the human eye?b. Can you see a potential difficulty in applying this genetherapy approach for diseases like microcephaly?Cornelia de Lange syndrome (CdLS) is a rare humandisease caused by a dominant loss-of-function mutation in any one of at least five different genes, all ofwhich encode components or regulators of the cohesin protein complex. People with CdLS have a widerange of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomalmis-segregation during cell division, their abnormalphenotype is likely due to widespread mis-regulationof gene expression during development. Cohesin mayplay a role in organizing chromatin loops necessaryfor proper regulation of transcription. (You will learnmore about this topic in Chapter 17.)a. In different families, CdLS can show an autosomaldominant or X-linked dominant inheritance pattern. How is this possible?b. Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to itswild-type counterpart.c. CdLS is usually caused by new mutation in oneparent’s…