Exam 3

Question 1

a nucleotide sequence responsible for a phenotype

Answer 1

genotype

Question 2

a change in DNA sequence that is present in a relatively small proportion of the population

Answer 2

polymorphism

Question 3

a reciprocal translocation is which type of mutation

Answer 3

chromosome

Question 4

the Philadelphia chromosome is used by a reciprocal exchange between chromosomes

Answer 4

chromosome mutation

Question 5

where are highly repetitive Alpha sequences located

Answer 5

centromeres

Question 6

a chromosome that has the centromere in the end of the chromosome is called

Answer 6

telocentric

Question 7

the short arm of the chromosome is designated as what

Answer 7

p

Question 8

when chromosomes are stained with gimsa after the harsher treatment it results in what band

Answer 8

R band

Question 9

examination of chromosomes in karyotypes is performed on chromosomes and what stage of mitosis

Answer 9

metaphase

Question 10

mitogen is used in the procedure of preparing a chromosome spread for karyotype analysis

Answer 10

induce cells to enter mitosis

Question 11

a loss of genetic material from a chromosome is called

Answer 11

deletion

Question 12

a chromosome formed when a Metacentric chromosome has a transverse split

Answer 12

ISOchromosome

Question 13

fusion and break apart probes are used to detect

Answer 13

translocation

Question 14

substitution of glycine with valine is an amino acid sequence in which type of mutation

Answer 14

non-conservative

Question 15

what detects mutations that are associated with double-stranded DNA into single stranded DNA

Answer 15

denaturing gradient gel electrophoresis

Question 16

cleavage based method to detect mutations

Answer 16

Invader assay

Question 17

what detects single base differences in DNA

Answer 17

single strand conformation polymorphism

Question 18

what assay can be performed with or without probe

Answer 18

melt curve assay

Question 19

sequencing based method

Answer 19

SSP PCR and allele specific oligomers hybridization

Question 20

most widely used method of DNA sequencing

Answer 20

Sanger sequencing

Question 21

polymorphisms do not

Answer 21

always have phenotypic effects

Question 22

polymorphisms from shortest to longest

Answer 22

SNP, Str, vntr, lines

Question 23

which polymorphisms are routinely used in the lab

Answer 23

Str, vntr, SNP

Question 24

Str located within a gene

Answer 24

tho 1

Question 25

mitochondrial polymorphism used for human identification are found in the hypervariable regions

Answer 25

the regions range from 268 to 342 bp