Molecular Medicine Flashcards
What method follows the inheritance of a marker that is linked to the mutant allele and have the advantage that they require no knowledge about the exact nature of the mutation?
indirect sequencing
What type of sequencing is used when the direct nature of the mutation is know?
direct
Order of what to sequence (3)
Whole exome sequencing: sequencing 30 million BP;
SNP typing: 10 million bps
only SNPS that matter: a few 1000
What does DNA sequencing not show? (2 things)
- does not show if mutation is on paternal or maternal copy
2. does not show if person has a deletion or a duplication
T/F: Dna sequencing can show if an individual is heterozygous or not.
true.
Comparative Genome Hybridization and FISH can be used to determine what?
copy # variation
Most techniques for the detection of mutations rely directly or indirectly on what technique?
nucleic acid hybridization
What technique can be used to identify DNA or RNA molecules with complementary sequences?
nucleic acid hybridization
What technique can detect genetic polymorphisms by amplifying DNA fragments?
PRC
Because PRC is good for qualitative detection of nucleic acids, what is used for quantification of DNA amounts?
real time PCR
the higher the number of template molecules, the fewer the cycles needed to reach threshold
What can be used to quantify the amount of specific RNA molecules in a sample?
Reverse Transcriptase PCR
What is a tool to detect single nucleotide polymorphisms and mutations?
ASOs
What is an example of a disease that can be discovered with ASos?
sickle cell: the intensity of the signal can be used to conclude if the patient is hetero or homozygous for the mutant allele
What is used for genetic screening of a patient for all known mutant alleles?
DNA microarrays
Arrays of oligonucleotides can also be used for what?
large scale analyiss of gene expressions
Why is malignant hyperthermia an important concept in molecular medicine?
knowing an individual’s genotype can help protect against a life threatening side effect from anesthesia; due to polymorphisms that cause patients to react differently
When is amniocentesis performed? (weeks) What cells are used?
15/16 weeks; skin cells
When is chronic villus sampling done? What is the downside?
10-12 weeks gestation … chance of misisng a mosaicism
B-lymphocytes produce what?
antibodies in response to an antigen
What is used to quantify an antigen?
sandwich ELISA
What is used to detect PTH, hba1c, and CRP?
sandwich Elisa
What is used to detect the presence of antibodies?
indirect Elisa
What technique is useful for the diagnosis of autoimmune disease?
indirect Elisas
Western blotting is a technique that uses specific antibodies to indicate whwat?
the molecular weight of a protein
What disease causes tumors and Aids and is stable?
retrovirus
What causes cold, conjunctivities and gastroenteritis and has no integration and expression is lost in 3-4 weeks?
adenovirus
What has no known disease association and is stable?
adeno-associated virus
What causes mouth ulcers, genital warts, and encephalitis and is stable and maintained outside of teh chrom?
herpes
What virus is unstable and cause no disease in mammals?
baculovirus
The first successful gene therapy trial was done on what?
ADA deficiency
Explain how Herceptin, a monoclonal antibody is being used for metastatic breast cancer.
ErbB-2 overamplication causes exposure of ErbB-2 protein on cell surface. Herceptin finds to tumor and initates an immune response to kill the cell.
