Explain how it might be possible to identify genetic defects from just a karyotype
--With a karyotype, it's like a photograph of the chromosomes from one cell. When you analyze the karyotype, you can determine the number of chromosomes in the cells of a porphyria victim and whether there are any pieces of chromosomal material that are missing, extra, or rearranged.
--With a karyotype, it's like a photograph of the chromosomes from one cell. When you analyze the karyotype, you can determine the number of chromosomes in the cells of a porphyria victim and whether there are any pieces of chromosomal material that are missing, extra, or rearranged.
Explain how mutations in the DNA sequence of a gene may be silent or phenotype change in an organism and its offspring.
--When a person who has porphyria has a mutation in the DNA, the amino acid will cause a coding for a different protein, which creates a different structure of DNA, and alters the phenotype. Genetic factors are required to produce phenotypic symptoms.
--When a person who has porphyria has a mutation in the DNA, the amino acid will cause a coding for a different protein, which creates a different structure of DNA, and alters the phenotype. Genetic factors are required to produce phenotypic symptoms.
Differentiate between dominant, recessive, codominant, polygenic, and sex-linked traits.
--Sex-linked = both males and females can have porphyria. Parents pass it on to children from the X chromosome in their genes. So a mother can pass it on to her son or daughter and a father can pass it to his daughter, but a father can't pass it on to his son.
Recessive = Porphyria can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Dominant = Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria.
--Sex-linked = both males and females can have porphyria. Parents pass it on to children from the X chromosome in their genes. So a mother can pass it on to her son or daughter and a father can pass it to his daughter, but a father can't pass it on to his son.
Recessive = Porphyria can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Dominant = Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria.
Generate new questions that can be investigated in the laboratory or field.
--Is there any way a cure for porphyria could be researched more? Or has it officially been declared that there is no cure for it?
--Is there any way a cure for porphyria could be researched more? Or has it officially been declared that there is no cure for it?
Critique whether or not specific questions can be answered through scientific investigations.
--One of the questions that can be answered if there were a scientific investigation is: Will there ever be a cure in the future for porphyria? I think that with the right scientists, dedication, and equipment, we can really try and find a cure. Technology has evolved to the point where we can have realistic holograms, swipe in mid-air to answer a call, all these things, and yet we don't have a cure for things like cancer, porpyhia, all these other dangerous diseases.
--One of the questions that can be answered if there were a scientific investigation is: Will there ever be a cure in the future for porphyria? I think that with the right scientists, dedication, and equipment, we can really try and find a cure. Technology has evolved to the point where we can have realistic holograms, swipe in mid-air to answer a call, all these things, and yet we don't have a cure for things like cancer, porpyhia, all these other dangerous diseases.