Genetics II Quiz

Q2. You’re studying inheritance at genes E and F. A diploid female with genotype EeFf lays an egg.
Which of the following egg genotypes is recombinant?

Ans.

Q2. You’re studying inheritance at genes A and B. A diploid individual with genotype AB//ab is
crossed with an individual with genotype ab//ab. Which of the following offspring genotypes is
recombinant?

Ans. Aabb

Q4. You are studying the offspring of this cross: ABC / abc x abc / abc. You observe the
following offspring numbers:

ABC/abc: 467

abc/abc: 470

ABc/abc: 19

abC/abc: 24

aBc/abc: 2

AbC/abc: 0

aBC/abc: 8

Abc/abc: 10

Based on these offspring numbers and genotypes, which of the following is closest to the
recombination fraction between markers A and B?

Ans. 0.02

Q5. You are measuring recombination between three genes: DBT, MFN2 and ASPM. The
recombination fraction between the DBT and MFN2 is 15% and between MFN2 and ASPM is 18%.
However, the recombination fraction between DBT and ASPM is slightly smaller than, but close to,
33%. What is the best explanation for this?

Ans. When looking at DBT and ASPM, some individuals counted as parental are actually
double recombinant
Q7. You are examining population association data to map factors associated with
testicular cancer. Here are some of the genotypes and associated phenotypes. Which of
these markers is likely closest to a factor causing testicular cancer?

AA healthy: 1228, diseased: 217

Aa healthy: 434, diseased: 76

aa healthy: 38, diseased: 7

BB healthy: 1115, diseased: 10

Bb healthy: 560, diseased: 190

bb healthy: 25, diseased: 100

CC healthy: 1143, diseased: 202

Cc healthy: 502, diseased: 88

cc healthy: 55, diseased: 10

DD healthy: 612, diseased: 108

Dd healthy: 816, diseased: 144

dd healthy: 272, diseased: 48

Ans. B

Q7. You are studying two single-nucleotide polymorphisms (SNPs) to map halitosis (or
bad breath) in a population. At the first SNP, individuals have A and/ or T nucleotides. At
the second SNP, individuals have A and/ or G nucleotides. Here are the genotypes you
obtain from your sample and the status of their breath:

SNP1: AA- 568 OK breath, 242 bad breath

SNP1: AT- 126 OK breath, 54 bad breath

SNP1: TT- 7 OK breath, 3 bad breath

SNP2: AA- 252 OK breath,108 bad breath

SNP2: AG- 337 OK breath,143 bad breath

SNP2: GG- 112 OK breath,48 bad breath

Which of these SNP markers appear to be in statistically significant LD (Linkage
Disequilibrium) with genetic factor(s) causing halitosis? (Assume differences of less than
2% are not statistically significant.)

Ans. Not SNP1

Q7. You are examining population association data to map factors associated with
pancreatic cancer. Here are some of the genotypes and associated phenotypes. Which of
these markers is likely closest to a factor causing pancreatic cancer?

AA healthy: 648, diseased: 162

Aa healthy: 144, diseased: 36

aa healthy: 8, diseased: 2

BB healthy: 72, diseased: 72

Bb healthy: 337, diseased: 83

bb healthy: 391, diseased: 99

CC healthy: 128, diseased: 32

Cc healthy: 384, diseased: 96

cc healthy: 288, diseased: 72

DD healthy: 20, diseased: 5

Dd healthy: 256, diseased: 64

dd healthy: 524, diseased: 116

Ans. Not B, C

Q1. Based on the lecture videos, which of the following statements is FALSE?

Ans, A) 2 genetic markers with a recombination frequency of 0 (completely linked) have a

50% chance of being located on the same chromosome

B) Alleles at 2 genetic markers that are located on different chromosomes will always be
inherited together in the offspring unless crossing over occurs

C) A genetic marker will only be freely recombining (Rf=0.5) with respect to markers on other
chromosomes, and never freely recombine with respect to markers on the same
chromosome
Q3. Please examine these cross offspring and identify which gene is in the middle.

Cross between ABC/abc and abc/abc:

ABC/abc = 404

abc/abc = 405

ABc/abc = 45

abC/abc = 45

Abc/abc = 45

aBC/abc = 46

AbC/abc = 5

aBc/abc = 5

Ans. Not A, Not C

Q3. Please examine these cross offspring and identify which gene is in the middle.

Cross between AbC/aBc and abc/abc:

ABC/abc = 13

ABc/abc = 11

abC/abc =6

AbC/abc = 257

aBc/abc = 237

Abc/abc = 1

aBC/abc = 0

abc/abc = 8

Ans. Not B

Q6. You suspect that there is a gene on chromosome 5, between base position 1 and 50,000 that
affects human susceptibility to testicular cancer. In order to test this, you want markers in that
region of chromosome 5 so you can map the susceptibility. Imagine that all the individuals in your
test sample have EXACTLY the same genetic sequence in that part of chromosome 5. Which of the
following statements is true?

Ans.

Q6. Which of the following statements is FALSE?

Ans.

Q8. You're a researcher mapping a recessive disease caused by a single-gene on

chromosome 8. You've localized it to a region and score offspring from pairings between
one parent heterozygous for the disease mutation (as well as two other markers, EeFf, in
this phase: EF // ef)) and the other parent homozygous for the disease mutation (as well as
for ee & ff). Your goal is to guess where the gene may be. You observe the following
genotypes and phenotypes in the offspring:

Ee Ff healthy: 465, diseased: 1

Ee ff healthy: 10, diseased: 25

ee Ff healthy: 25, diseased: 10

ee ff healthy: 0, diseased: 464

Let's say you ALSO know that genes E and F are on chromosome 8, which is linear and has
~145,000,000 bases. Positions along this chromosome are numbered sequentially from 1
to 145,000,000 (with every base having a number). Gene E is at base positions 40,000,000-
40,050,000 , and gene F is at base positions 50,000,000-50,020,000. Based on the
recombination data you have above, which of the following COULD be the location of the
disease-causing mutation?

(Suggestion: Figure out the order of the three genes (markers E & F, and the disease gene),
and then determine where the disease gene could be.)

Ans. Chromosome 8, base position 47,142,924

Q8. You are mapping a single gene completely associated with Noor syndrome, which
causes diseased individuals to make overly complicated questions on tests.
Heterozygotes for the disease allele are OK- the syndrome is completely recessive. You
look at offspring of a cross between heterozygotes for the disease and homozygotes for
the disease, and you genotype them for alleles at two markers D and E. Those individuals
heterozygous for the disease allele were also heterozygous for the two markers (DdEe, in
this phase: DE // de), and individuals homozygous for the disease allele were homozygous
for the markers (de // de). You see the following in their kids:

Dd Ee healthy: 904 diseased: 19

Dd ee healthy: 72 diseased: 1

dd Ee healthy: 3 diseased: 63

dd ee healthy: 33 diseased: 905

Let's say you ALSO know that genes D and E are on chromosome 7, which is linear and has
~158,000,000 bases. Positions along this chromosome are numbered sequentially from 1
to 158,000,000 (with every base having a number). Gene D is at base positions 7,000,000-
7,050,000 , and gene E is at base positions 14,000,000-14,020,000. Based on the
recombination data you have above, which of the following COULD be the location of the
disease-causing mutation?

(Suggestion: Figure out the order of the three genes (markers D & E, and the disease gene),
and then determine where the disease gene could be.)

Ans. Chromosome 7, base position 3,502, 553

Q9. You are interested in finding markers for a gene associated with acid reflux. You
genotype 100 (50 healthy, 50 diseased) individuals at 2 SNPs and get the following results :

32 healthy, 0 diseased

SNP1 AT

SNP2 GC

15 healthy, 0 diseased

SNP1 TT

SNP2 GC

1 healthy, 28 diseased

SNP1 AT

SNP2 CC

2 healthy, 22 diseased

SNP1 TT

SNP2 CC

Which of the SNPs is associated with the disease?

Ans. SNP 2
Q9. You are interested in finding markers for a gene associated with acid reflux. You
genotype 100 (50 healthy, 50 diseased) individuals at 2 SNPs and get the following results :

32 healthy, 0 diseased

SNP1 AT

SNP2 GC

15 healthy, 0 diseased

SNP1 TT

SNP2 GC

1 healthy, 28 diseased

SNP1 AT

SNP2 CC

2 healthy, 22 diseased

SNP1 TT

SNP2 CC

Which of the SNPs is associated with the disease?

Ans. SNP2

Q9. Within human populations, it is unethical to force people to mate with each other in order to
map disease genes. How do scientists go about determining where the disease genes are located?

Ans.

Q10. Your friend is interested in mapping factors associated with colon cancer. He finds a marker
(C) where individuals with genotype CC have a 5% occurrence of colon cancer and individuals with
cc have a 40% occurrence of colon cancer. He concludes that marker c is linked to a variation that
causes colon cancer, but he is wondering why there are some people with CC that develop colon
cancer and some people with cc that don’t develop colon cancer. What is the reason for this?

Ans.
Q10. Your friend is interested in mapping factors associated with colon cancer. He finds a marker
(C) where individuals with genotype CC have a 0.4% occurrence of colon cancer and individuals
with cc have a 40% occurrence of colon cancer. He concludes that the cc genotype at that marker
causes colon cancer. Assess his conclusion.

Ans. Not