Buckingham - Chapter 10 - DNA Polymorphisms and Human Identification

1. Which of the following polymorphisms are tandem repeats of 1 to 8 bp?

A. Restriction fragment length polymorphisms

B. Short Tandem Repeat

C. Variable-number tandem repeats

D. Multiple-nucleotide polymorphisms

B. Short Tandem Repeat

2. Southern blot is used to detect which of the following polymorphisms?

A. Edited RNA

B. Single-nucleotide polymorphisms

C. Restriction fragment length polymorphisms

D. Long interspersed nucleotide sequences

C. Restriction fragment length polymorphisms

3. If a locus on chromosome 16 is homozygous, then the locus has

A. many different alleles on one chromosome 16.

B. the same alleles on each chromosome 16 homolog.

C. different alleles on each chromosome 16 homolog.

D. no alleles.

B. the same alleles on each chromosome 16 homolog.

4. How do STRs and VNTRs differ?

A. STRs have fewer repeats than VNTRs.

B. STRs have longer repeat units than VNTRs.

C. STRs have shorter repeat units than VNTRs.

D. STR alleles are only distinguishable by Southern blot.

C. STRs have shorter repeat units than VNTRs.

5. Two STR allele peaks from different sources falling within a bin describe what relationship?

A. Different alleles

B. Identical alleles

C. Paternity

D. Exclusion

B. Identical alleles

6. DNA was isolated from a patient and cut with HaeIII. The resulting fragments were separated by gel electrophoresis and transferred to a membrane. The fragments were allowed to hybridize to a probe, and the resulting band pattern was compared with that seen in another sample of DNA. Which of the following methods is described?

A. RFLP by Southern blot

B. VNTR by PCR

C. SNP by sequencing

D. STR by qPCR

A. RFLP by Southern blot

7. FGA, D8S1179, and D2S11 are examples of which of the following?

A. RFLP

B. SINE

C. STR

D. SNP

C. STR

8. Which of the following is used as a marker of gender?

A. D8S1179

B. Amelogenin

C. TPOX

D. Penta D

B. Amelogenin

9. How many loci are considered core loci by the Federal Bureau of Investigation in the Combined DNA Indexing System?

A. 10

B. 12

C. 13

D. 16

C. 13

10. When two sources of DNA are compared by STR analysis in a crime scene, how many allele differences will determine that the two sources are different?

A. One

B. Two

C. Four

D. Six

A. One

11. Which of the following polymorphisms can be used to compare DNA samples derived from males but not females?

A. STR

B. Y-STR

C. RFLP

D. VNTR

B. Y-STR

12. Which of the following STRs is a Y-STR?

A. D5S818

B. vWA

C. Penta E

D. DYS385

D. DYS385

13. A child has disputed paternity. The child has the following STR genotype: TPOX = 7/8; D5S818 = 11/12; D13S317 = 9/10; vWA = 11/12; D21S11 = 27/28. Alleged Father 1 has the following STR genotype: TPOX = 6/10; D5S818 = 9/13; D13S317 = 9/14; vWA = 14/16; D21S11 = 30/33. What can be said of Alleged Father 1?

A. He is the father of the child.

B. He cannot be excluded as the father.

C. He is excluded as the father.

D. More STRs need to be analyzed before a conclusion can be made.

C. He is excluded as the father.

14. What is an expression for how many times more likely it is that the child's allele is inherited from the alleged father than by random occurrence of the allele in the general population?

A. Exclusion

B. Paternity index

C. Inclusion

D. Probability of paternity

B. Paternity index

15. What is a microvariant?

A. An STR allele missing base pairs in the repeat unit

B. Any mini-STR allele

C. A viral genome integrated into host DNA

D. A DNA region with many HaeIII sites

A. An STR allele missing base pairs in the repeat unit

16. Two elderly women who had been adopted into different families as infants discover circumstantially that they may have the same biological mother. Which of the following analyses would give the best information toward proving their maternal lineage?

A. Y-STR

B. Mitochondrial DNA

C. RFLP-PCR

D. SNP haplotypes

B. Mitochondrial DNA

17. How are Y alleles inherited?

A. As recombined combinations on two chromosomes

B. As a diploid genotype

C. As a haplotype on one chromosome

D. Maternally

C. As a haplotype on one chromosome

18. A woman has been assaulted by an unknown man. Which of the following laboratory procedures can be used to more accurately analyze residual DNA left by the man in an effort to identify him?

A. RFLP

B. STR

C. Y-STR

D. VNTR

C. Y-STR

19. DNA found at the scene of the crime was determined to have one peak at 212 bp at the amelogenin locus. The source of this DNA is which of the following?

A. The source of the DNA is likely female.

B. The source of the DNA is likely male.

C. Impossible to tell from one locus

D. Impossible to tell because this locus does not discriminate between males and females

A. The source of the DNA is likely female.

20. Which are more likely to be successfully analyzed on highly degraded DNA?

A. VNTRs

B. RFLPs

C. STRs

D. mini-STRs

D. mini-STRs

21. How are mitochondrial polymorphisms inherited?

A. Paternally

B. Maternally

C. In multiples of six bases

D. Randomly

B. Maternally

22. Mitochondrial polymorphisms used for human identification are found in what part of the mitochondrial genome?

A. In the mitochondrial tRNA genes

B. At the origin of transcription

C. In the hypervariable regions

D. Anywhere on the circular genome

C. In the hypervariable regions

23. The uniqueness of mitochondrial and Y-STR alleles is expressed by what measure?

A. Matching probability

B. Discriminatory capacity

C. Recombination frequency

D. Linkage to autosomal loci

B. Discriminatory capacity

24. An individual who has two populations of cells that were derived from two different zygotes is called a

A. chimera.

B. mosaic.

C. clone.

D. mutant.

A. chimera.

25. STR analysis is performed on bone marrow donor-recipient pairs prior to transplantation for which of the following reasons?

A. To determine whether the donor and recipient are a match

B. To determine the likelihood of graft-versus-host disease

C. To find informative alleles for post-transplantation studies

D. To add their STR haplotypes to a national database

C. To find informative alleles for post-transplantation studies

26. STR analysis was performed on a bone marrow donor and recipient pair with the following results. Which loci are informative?

Locus Donor alleles Recipient alleles

vWA 12/13 12/17

TH01 8/11 8/11

D13S317 10/14 9/12

D16S539 9/11 9/11

F13A01 7/12 7/12

CSF1PO 13/15 13/15

A. vWA and TH01

B. TH01 and D13S317

C. D16S539 and F13A01

D. vWA and D13S317

D. vWA and D13S317

27. Bone marrow has been transplanted into a recipient. STR analysis was performed on whole blood from the recipient 6 months after the transplant by PCR, followed by capillary gel electrophoresis with fluorescence measurement of amplicons. For the TPOX locus, the donor and recipient do not share alleles. The fluorescence of the TPOX locus for the donor peak was 15693, and the fluorescence of the TPOX locus for the recipient peak was 5329. What is the percentage of recipient cells remaining?

A. 25%

B. 34%

C. 66%

D. 75%

A. 25%

28. The six-repeat allele of the D13S317 locus (D13S317 6) is present in all members of a family affected with a particular disease trait. How is this interpreted?

A. D13S317 is a disease gene.

B. D13S317 is not associated with the trait.

C. The trait is linked to D13S317.

D. The disease gene is not on chromosome 13.

C. The trait is linked to D13S317.

29. Which type of polymorphisms are best identified by next-generation sequencing (NGS)?

A. VNTRs

B. Y-STRs

C. RFLPs

D. SNPs

D. SNPs

30. Which changes with age?

A. VNTR profile

B. DNA methylation patterns

C. mtDNA hypervariability

D. Single-nucleotide polymorphisms

B. DNA methylation patterns