Molecular Diagnostics Chapter 7 Exam with verified solutions

Molecular Diagnostics Chapter 7 Exam with verified solutions How many base pairs are in the human genome? - answer2.9 billion What is the difference between a mutation and a polymorphism? - answermutations are reserved for rare changes in DNA like those found in cancer. Polymorphisms are variants that occur in 1-2% of the population and do not affect phenotype heavily What are the three largest and smallest chromosomes? - answerlargest: 1, 2 3 smallest: 22, Y, 19 What is an example of a balanced polymorphism? - answersickle cell anemia What is an example of a benign polymorphism? - answerBlood Type ABO, HLA-type gene mutation - answera change in the base sequence of a gene chromosome mutation - answerchange in chromosome structure Genome mutations - answerchanges in chromosome number Euploid - answeran individual with the appropriate number of chromosomes for their species Aneuploid - answeran individual with an error in chromosome number; includes deletions and duplications of chromosome segments Chromosome behavior is dependent on chromosome _________________ and DNA _______________ - answerstructure and sequence position effect - answerdependence of the expression of a gene on the gene's location in the genome Compaction - answerwinding of DNA into metaphase chromosomes