The following pedigree follows the inheritance of clubbed fingers in humans. (A) Predict how this disorder is inherited (what pattern of inheritance?). (B) State the genotypes for the individuals listed below... If more than possibility is possible for an individual, list both. Individuals: I-2, 1-4, Il-7, III-1, and IV-7 6. 8. 2. 3. 6. IV
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- Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…Hair color is due to the presence of melanin. There are two types of melanin produced by melanocytes. One is eumelanin, which is responsible for black (homozygous), brown (heterozygous), and blond (recessive) hair colors. The other is pheomelanin, which is responsible for red hair color. During melanin synthesis, MCR1gene converts pheomelanin to eumelanin. However, a variant of the MCR1 gene (MCR1variant), prevents this conversion. A cross between a blond-haired mother and a red-haired father produced 100% brown-haired children. When they came of age, one child married a double heterozygote, and both were blessed with 7 children; 2 with black hair, 2 with brown hair, 1 with blond hair, and 2 with red hair. TIP: Black hair is homozygous while brown hair is heterozygous, thus represented together in determining the ratio and written as black/brown in the 9:3:3:1 ratio. However, all F2s must be given their COMPLETE genotypes. Using the 7-step method, determine the genotypes of the…Regarding albinism, with adavances in fields such as gene therapy and stem cell research, is there a therapeutic solution to this genetic disorder?
- Muckle–Wells syndrome is an autosomal dominantly inherited disease due to mutations in NLRP3. Individuals with this disease suffer from episodes of fever, as well as urticarial rash, joint pains, and conjunctivitis. What is the explanation for the beneficial effects of anakinra (IL-1 receptor antagonist) treatment in these patients?The terminal sugars of the antigenic determinants of A and B blood groups are: O a. N-acetyl-galactosamine and N-acetyl glucosamine O b. D-galactose and N-acetyl glucosamine O c. N-acetyl-D-glucosamine and L-fucose O d. N-acetyl-galactosamine and D-galactose1) using at least one named example discuss the implication of allelic heterogeneity in single gene disorder for the presentation and progession of the disorder and its treatment 2) discuss the importance of understanding epigenetics in improving people health
- What phenotype is expressed from the genetic trait hemophilia?Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.Galton’s traits are readily observed in everyday life. What did Galton discover?
- Jacob and Patau Syndromes List the similarities and differences between these two syndromes. Which of the syndromes is more severe?Why Recessive CF disease alleles either produce no CFTR or produce nonfunctional or less functional versions of the protein?Parents who both have "sickle-cell trait", i.e, are heterozygous for HbS have a child who is tested at birth, and is found to be homozygous for HbS (both alleles affected). What is the molecular reason why the child presents with no symptoms until 6 months of age? a.) the mutation affects the beta chain, which is not dominant at birth b.) the mutation affects the alpha chain, which is not dominant at birth c.) babies cannot be exposed to low oxygen that triggers symptoms d.) babies cannot be exposed to high oxygen that triggers symptoms