Which of the following best characterizes human mitochondrial mutations?` They are sex linked. They are paternally inherited. They are pleiotropic. Phenotype is usually restricted to a single process or trait.
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Which of the following best characterizes human mitochondrial mutations?`
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- Mitochondrial DNA (mtDNA)-linked disorders: follow a maternal inheritance pattern usually follow both a maternal and paternal inheritance patternDescribe the most common molecular mechanism for recessively inherited human genetic diseases such as cystic fibrosisAll of the following are true EXCEPT Group of answer choices mitochondrial DNA is inherited only from your mother only men have a Y chromosome mitochondrial DNA is crucial in tracing the human lineage mitochondrial DNA mutates faster than nuclear DNA nuclear DNA is susceptible to point mutations
- Why does mitochondrial DNA come only from your mother?Tay–Sachs disease is caused by loss-of-function mutations ina gene on chromosome 15 that encodes a lysosomal enzyme.Tay–Sachs is inherited as an autosomal recessive condition.Among Ashkenazi Jews of Central European ancestry, about1 in 3600 children is born with the disease. What fraction ofthe individuals in this population are carriers?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.A human gene called the β-globin gene encodes a polypeptidethat functions as a subunit of the protein known as hemoglobin.Hemoglobin is found within red blood cells; it carries oxygen. Inhuman populations, the β-globin gene can be found as the common allele called the HbAallele, and it can also be found as theHbSallele. Individuals who have two copies of the HbSallele havethe disease called sickle cell disease. Are the following examplesdescriptions of genetics at the molecular, cellular, organism, orpopulation level?A. The HbSallele encodes a polypeptide that functions slightlydifferently from the polypeptide encoded by the HbAallele.B. If an individual has two copies of the HbSallele, that person’sred blood cells take on a sickle shape.C. Individuals who have two copies of the HbAallele do nothave sickle cell disease, but they are not resistant to malaria.People who have one HbAallele and one HbSallele do not havesickle cell disease, and they are resistant to malaria. People whohave…Which of the following is true regarding the presence of a multigene family? A. Multigene families are produced by any sort of chromosomal rearrangement. B. Multigene families are produced whenever a transposon is inserted into a gene. C. Multigene families are produced by all types of mutation, including single base substitutions. D. Multigene families are produced by some mutations that involve duplication.
- To determine whether radiation associated with the atomic bombings of Hiroshima and Nagasaki produced recessive germ-line mutations, scientists examined the sex ratio of the children of the survivors of the blasts. Can you explain why an increase in germ-line mutations might be expected to alter the sex ratio?Achondroplasia is an autosomal dominant form of dwarfism caused by a single gene mutation. Calculate the mutation rate of this gene given the following data: 10 achondroplastic births to unaffected parents in 245,000 births.Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is found amongst Ashkenazi Jews of Central European origin. In this population, 2 in 4,900 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease? ALL WORKING MUST BE SHOWN