Exam 7: Genetic Variation Producing Diseasecausing Abnormalities in Dna and Chromosomes

Fill in the blanks using single words. Human mitochondrial DNA is transmitted exclusively by ____1_____. As well as transmitting chromosomes ???to the oocyte, sperm also transmit _____2____ but they are selectively ___3____ in the early embryo. Because mtDNA replication is independent of the cell cycle and there are many mtDNA molecules per cell, a population of mutant mtDNA molecules can co-exist in a cell with a population of normal mtDNA molecules, a state known as _____4_____. Because mtDNA replication is ____5____ and because ____6____ expansion of mutant DNAs is variable, the proportion of mutant to normal mtDNAs in a cell can ___7____ significantly between cells in the same individual.

The pathogenesis of $\alpha$ ₁-antitrypsin deficiency due to the common missense mutants PI*S and PI*Z is due to a failure in protein processing and secretion, and to aberrant protein aggregation. Explain how.

Which, if any, of the following statements is true?

Give three examples of disorders where the pathogenesis can result from recurring large deletions and one where the pathogenesis can result from a recurring large duplication.

Which, if any, of the following statements is false?

Amino acids can be divided into non-polar amino acids and polar amino acids. List the five different classes of polar amino acids.

Fill in the blanks using single words. A person with two or more genetically different cell lines is described as a genetic ___1____. Because we have so many cells in our bodies everyone will have cells that are genetically different as a result of ___2____ mutation; each of us is a genetic ___1___. People who have cells that originated from different zygotes are described as ___3____. That can happen when a person is a recipient of organ or cell _____4____. It can also happen during pregnancy at the earliest stages of development when non-identical ____5____ ___6___ fuse, and, more commonly at later stages of development, when there can be an exchange of cells between the ____7____ and the ___8___.