Genetics and Genomics Open questions Flashcards
What does epigenetics mean? What are the epigenetic mechanisms? What are the effects of these epigenetic mechanisms?
- Epigenetics
- the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.
- DNA methylation + histone modification - Mechanisms:
- Pretranscriptional = Acetylation and methylation (adding of groups)
- Posttranscriptional = miRNA, siRNA, piRNA - Effects
The following items are related to each other in a hierarchical fashion.
- G-band
- exon
- code
- nucleotide
- intron
- genome
- chromosome
- gene
- chromosome arm
- sister chromatid.
Put them in increasing size order.
– Nucleotide – Code
– Exon
– Intron
– Gene
– G-band
– Chromosome arm
– Sister chromatid
– Chromosome
– Genome
- Give the PRECISE name of structural chromosomal aberrations shown below and label the unbalanced ones by U and balanced ones by B.
Give two diseases that are caused by these structural aberrations. Name the aberration that is the cause of the disease.
- Deletion
- Prader Willi - paternal deletion of 13q 11-13 - Translocation
- Burkitt Lymphoma t (8:14) - Deletion
- Cri du chat 5p
- Digeorge 22q11.2
List the methods that may be used to identify and differentiate such chromosomal abnormalities?
- Karotype
- FISH
- Genetic testing
- Amino centesis
- Chorionic villus sampling
- Biochemical test
- Molecular genetic tests
- Blood/saliva
- The following short sentence represents a gene:
WET WET WET ARE NOT ALL BAD
Give the PRECISE type of mutation in the followings (eg. Gene mutations is not precise enough) (maximum 6 scores)
a. WEE WET WET ARE NOT ALL BAD
b. WET WET WET ARE COT ALL BAD
c. WEW ETW ETA REN OTA LLB AD
d. WET WET WET ART TEN OTA LLB AD
e. WET WET ARE NOT ALL BAD
f. WET WET WET WET WET WET ARE NOT ALL BAD
- What does RFLP mean and what is its significance in genotyping? (maximum 4 scores)
9A. Explain Pleiotropy by the help of disease examples.
9B. Explain Phenocopy by the help of disease examples.
In the figure below the result of karyotyping is visible. Carefully look at the karyogram and precisely answer the questions related to this figure. There is only one aberration! (5 points)
a) What do you know about the sex of this person who has this karyogram? (1 point)
b) Does this person have any health problem? (1 point)
c) Classify the type of mutation that is present in the patient? (1 point)
d) Which chromosomes can be involved in this type of mutation? (1 point)
e) Please, give the official description of this karyogram! (1 point)
a/ male
b/ Yes
c/ Triploidy
d/ Autosomal, sex
e/ 69 XXY
List the major steps of routine chromosome preparation and karyotyping?
a. Take sample from peripheral blood smear (lymphocyte)
b. Add PAH to induce blast transformation
c. Add colchicine to arrest cell cycle in metaphase
d. Put in hypotonic solution to make cells swell and burst
e. Fixation and air dry
Draw overall scheme, stages of oogenesis. Name the cells and give their chromosome number. Label the cells which are in meiosis I and II.
Define the next terms: mosaicism, functional mosaicism and chimerism, microchimerism? What is the difference between them? What can be the cause of them? (maximum 8 scores)
What does histone modification mean? List the different types of histone modifications. What is the significance of them? (maximum 5 scores)
List the substages of meiosis I prophase and give the main event occurring in these substages. (maximum 7 scores)
List the substages of meiosis I prophase and give the main event occurring in these substages. (maximum 7 scores)
Describe the different genetic causes of Prader-Willi syndrome (maximum 6 scores)
List the different non-typical divisions and give their cause (maximum 5 scores)
What are the two meanings of RT-PCR? Describe the significance and the main steps of one of the methods. (maximum 6 scores)
Describe the meaning of the followings: sex linked, sex limited and sex influenced inheritance. (Do not forget to give the location of gene responsible for the trait in these different inheritances). Give one example for each. (maximum 6 scores)
