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1. Provide the specific gene involved and the area where the mutation occured in Leigh's syndrome.
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- 1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals. (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works). (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.. Discuss how Genome-wide association studies (GWAS) can be used to identify genetic risk loci for (a) diseases with complex inheritance and (b) pharmacogenomic genotype-phenotype associations. Draw on specific examples and experimental evidence in your discussion.A. Describe in complete sentences how the requirement of a PAM sequence affects the flexibility of CRISPR-Cas9 gene editing.
- 4. Allele specific oligo-nucleotide hybridization is a genetic test used to look for single nucleotide polymorphisms (SNPS) associated with genetic diseases. It uses short sequences of labeled DNA as probes to bind onto either the normal allele or mutated allele in a patient's sample. Given that hemocystinuria is an autosomal recessive disease, use the results from the ASOH test below to determine the GENOTYPE and PHENOTYPE of the newborns born at Henry Mayo Hospital this week. Luis Mina Emma Elias Genotype Phenotype Allele H probe Allele h probe Luis Mina Emma EliasMatch the following terms with their correct definitions. A change in a gene that causes it to produce no protein. A loss-of-funtion in one allele that is uominant because the wild type allele alone does not produce enough protein to serve its typical role. 1. Loss-of-function mutation 2. Null mutation 3. Gain-of-function mutation A change in a gene that causes it to produce less protein or protein that is not able to serve its typical role. 4. Haploinsufficiency A change in a gene that causes it to produce increased protein or protein that takes on a new role.7. Looking at mice mutations, we can see many more agouti mice that have turned albino and much less albinos that have turned agouti. Why is this the case?
- 4). p53 (sometimes called TP53 for “tumor protein 53") is a human tumor suppressor gene that is mutated in the majority of human cancers (many tumor types). a. For each of the mutations described below (i-iv): is this a mutation you would expect to find when sequencing p53 alleles from tumor cells? Why or why not? i. A missense mutation encoding a hyperactive form of the protein. ii. A deletion of the gene. iii. An insertion in the promoter that increases transcription 10-fold. iv. A nonsense mutation. b. When sequencing the p53 gene in tumor cells, would you expect to find only mutant version(s) of the gene or a mix of mutant and wild type versions? c. For any of the mutations you said you would expect to find in tumor cells, would you expect tumor cells to be homozygous (same mutation on both chromosomes)? Why or why not? d. Individuals with Li-Fraumeni syndrome have a very high risk of tumors originating in various tissues due to inheritance of a loss-of-function mutant allele of…8. Identify the following. Gene found on Y chromosome but not X chromosomes Protein coded for by SRY gene Function of testis determining factor (TDF) Organ that secretes testosterone and Mullerian inhibiting factor (MIF) Hormone that promotes development of external genitalia along male line Protein that transforms Wolffian ducts into male reproductive tract organs Organ that develops in the absence of TDF SRY gene sex-determining region Y protein initiating male sex determination TestosteroneTalk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.
- 1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Please EXCLUDE the use of CRISPR from consideration. A. Will you use germline or somatic cell gene therapy? Please NAME and DEFINE the form of gene therapy selected, then explain WHY this is the most appropriate choice.1. The first genetic test used a short DNA sequence that was closely linked to the Huntington’s locus. People taking the test were classified as to whether they had the DNA sequence that was linked to the Huntington’s disease. This method was 95% accurate. This means that 95% of the people who had the Huntington’s-linked DNA sequence actually inherited the Huntington allele. It also meant that 95% of the people who did not have the DNA sequence linked to the Huntington allele did not inherited the wild-type allele (not the Huntington allele).Why might this preliminary test not be as accurate as a gene test for the actual Huntington’s allele? Explain.2. Dosage analysis Genotype Phenotype N'/N* Notched wing Df (N) / N' lethal Dp (N*)/ N* Confluens wing Dp (N')/ Dp (N*) tattered wing N'/N' lethal What kind of mutation is N'? Is N'dosage compensated? What is the function of N*