T5M1- Genetic Variation

Question 1

define tandem repeats

Answer 1

occur in DNA when a pattern of one or more nucleotides is repeated and the repetitions are directly adjacent to each other.

Question 2

when is there no observed effect in variations

Answer 2

when occurs in non coding regions

Question 3

define DNA polymorphisms

Answer 3

presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations

Question 4

how are DNA polymorphisms used in mapping

Answer 4

allow assembly of high density genetic maps
- referred to as DNA markers

Question 5

what can DNA polymorphisms be used for

Answer 5

identify individuals or show relatedness

Question 6

how are DNA polymorphisms detectable

Answer 6

microarray analysis, PCR blot or DNA sequencing

Question 7

what is the most common type of genetic variation

Answer 7

single nucleotide polymorphisms (SNP)

Question 8

what are SNPs

Answer 8

change due to single nucleotide base change or substitution in sequence

Question 9

where are SNPs found

Answer 9

both coding and non coding regions

Question 10

when can SNP be a marker?

Answer 10

if found near a particular gene

Question 11

what happens if a SNP is linked to a gene of interest?

Answer 11

its passed on with the gene

Question 12

what are attached to glass chips during DNA microanalysis

Answer 12

oligonucleotides

Question 13

what are oligonucleotides

Answer 13

short single strands of synthetic DNA or RNA

Question 14

how are DNA strands identified in DNA microarray

Answer 14

fragments of single stranded fluorescent DNA is hybridized into chip

Question 15

how to tell if someone is homozygous or heterozygous for a SNP using DNA microarray

Answer 15

due to known position of probes in chips, the short complementary DNA attach and can be tracked to identify SNP to see if homo or heterozygous

Question 16

how are tandem repeats positioned

Answer 16

adjacent to one another

Question 17

how are tandem repeats identified

Answer 17

PCR and gel electrophoresis

Question 18

define genotype

Answer 18

representation of pair of alleles carried by a person

Question 19

define phenotype

Answer 19

cell or body’s interpretation of genotype

Question 20

what is different about sickle cell anemia red blood cells

Answer 20

assume sickle shape compared to normal biconcave, round shape

Question 21

why are sickle red blood cells dangerous

Answer 21

oxygen is not carried efficiently- cannot smoothly stack and block fine capillaries

Question 22

what are some symptoms of sickle cell anemia

Answer 22

anemia and acute pain

Question 23

which chromosome is responsible for beta globin protein

Answer 23

chromosome 11

Question 24

which allele codes for functional red blood cells

Answer 24

homozygous HbA allele

Question 25

which allele codes for sickle red blood cells

Answer 25

homozygous HbS

Question 26

what causes HbS genotype

Answer 26

mutation or SNP during protein coding

Question 27

what is the acute pain in sickle cell anemia patients due to

Answer 27

damage of organs and tissues

Question 27

what is the acute pain in sickle cell anemia patients due to

Answer 27

damage of organs and tissues

Question 28

what happens if someone has HbA/HbS genotype

Answer 28

no symptoms of sickle cell anemia- enough normal hemoglobin is produced to overcome effect

Question 29

what advantage do HbS/HbA individuals have?

Answer 29

resistance to malaria

Question 30

two polymorphisms that contribute to genetic variation

Answer 30

SNP and variable number

Question 31

how can copy number variation be identified

Answer 31

based on fluorescent intensities

Question 32

correlation between low starch diets and AMY1 gene

Answer 32

fewer gene copies

Question 33

are SNPs always located within genes

Answer 33

no, can be outside as well

Question 34

define linked SNPs

Answer 34

located outside genes and do not effect protein function
- can still serve as markers

Question 35

define causative SNPs

Answer 35

affect the way a protein functions correlating with a disease
- in coding or regulatory regions