Deck 5: Mapping and Identifying Genes for Monogenic Disorders

Question 1

What supporting evidence can be used to decide whether variation in a gene is actually a mutation?

A) It is never found in people without the phenotype of interest
B) It must be in an exon
C) Additional variation is found in the same gene in other people with a similar phenotype
D) It is expressed only in a tissue relevant to the phenotype
E) All of the above

Answer 1

Additional variation is found in the same gene in other people with a similar phenotype

Question 2

What is a contig?

A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions

Answer 2

A series of clones with overlapping DNA that spans a particular genetic region

Question 3

The human genome contains approximately how many base pairs of DNA?

A) 3 x 10⁶
B) 3 x 10⁷
C) 3 x 10⁸
D) 3 x 10⁹
E) 3 x 10¹⁰

Answer 3

3 x 10⁹