Term
__________ __________ is used to detect VNTR (variable number of tandem repeats) in fragile X syndrome.
a. Southern Blotting b. Western Blotting c. Northern blotting d. PCR |
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Definition
a. Southern blotting
cp page 433 |
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Term
If the causative gene is known, and you want to find out what specific mutation has occurred, which of the following is appropriate testing?
a. Sanger sequence b. Karyotyping c. CGH array, or CGH d. Whole exome sequencing |
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Definition
Sanger Sequence would be appropriate. You have the gene, but don't know what mutation has occurred.
CP 449 |
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Term
A method of testing for Hepatitis C virus includes creating a PCR product, digesting it with enzymes, and analyzing the pattern to look for a specific genotype. This is characteristic of what molecular method?
a. Southern blot b. RFLP c. ASO |
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Definition
b. RFLP Restriction fragment length polymorphism
cp page 447. |
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Term
In FISH (fluorescence in situ hybridization), two probes are used detect EGFR2 that amplifies the cancer.
These are:
________ __________ _________ (CEP) & a __________ __________ _________(LSI) |
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Definition
Centromere enumeration probe
&
Locus Specific Identifier probe.
cP page 443. |
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Term
A physician would like to determine the global pattern of gene expression in two different types of tumor cells in order to develop the most appropriate form of chemotherapy for each patient. Which of the following techniques would be most suited for this purpose? A. Northern blot B. Southern blot C. Western blot D. Comparative genomic hybridization E. Microarray gene expression profiling |
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Definition
e. Microarray gene expression profiling
CP 440 |
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Term
PCR for epidermal growth factor 1 (EGFR1) is used to test for this form of cancer, ______ cancer, which has an 85% mortality rate. This makes this the most lethal cancer in the US. |
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Definition
PCR --> EGFR1 (Tyrosine kinase) --> Looks for lung cancer
CP p 441 |
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Term
You wish to analyze the pattern of genes expressed in a breast cancer in order to identify potential differences to normal breast tissue cells. Which of the following enzymes is most useful to you in your anticipated studies? A. DNA ligase B. DNA polymerase II C. Taq DNA polymerase D. Reverse transcriptase E. Restriction endonucleases |
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Definition
D. Reverse Transcriptase
Practice test 2 |
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Term
A 4-year-old male presents to his pediatrician. His mother expresses concern that the child has been regressing since the previous year. Upon examination, the patient has regressed in his milestones, specifically in motor and speech development. The patient was referred to a neurodevelopmental specialist. Testing for Fragile X syndrome using STR (short tandem repeat) analysis of the FraX gene, for example, proved negative. Based on these findings and other symptoms, the specialist believes the patient may have autism, which most likely represents a multifactorial disorder involving inherited predisposition or genetic susceptibility interacting with environmental factors. A reasonable next test is: A. Southern blotting for the autism gene B. Polymerase Chain Reaction (PCR) using centromere-specific primers for chromosome 5 C. Chromosomal microarray (array CGH) analysis D. Fluorescence in situ hybridization (FISH) analysis using probes specific to chromosome 7q11 E. Chromosome analysis using solid staining |
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Definition
C. Array CGH
We went very detailed - using STR, and that didn't pick up anything, so now we step back and use a broader brush with Array CGH.... Looking for a large amplification or deletion.
CP page 449 and practice test |
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Term
Which of the following relates to restriction fragment length polymorphism (RFLP) analysis? A. Can be used to detect one base differences in DNA sequence B. Detects differences in conformation of single strands of DNA C. Requires the use of an RNA intermediate D. Uses western blotting as part of the technique E. Uses Sanger DNA sequencing as part of the technique |
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Definition
A. Can be used for 1 base differences
Very specific - so if you know the gene cause, AND the mutation cause, you can find out exactly where/what the problem is.
CP page 449 |
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Term
Which of the following is a function of restriction endonucleases in bacteria? A. degradation of foreign DNA B. enhancement of transcription C. Participation in DNA repair D. Participation in synthesis of lagging strand DNA E. stimulation of recombination |
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Definition
A. Degradation of foreign DNA
Used as a tool - groundbreaking in 1971!!!
CP. p 416 |
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