KARYOTYPYING PRACTICAL FOR MEDICAL GENETICS

This is a “dry practical” which will be done in class with scissors and paper and demonstrates the technique of karyotyping.
Please write up the coursework exactly as it is set out ie include the question, mark scheme and answers preceded by the completed karyotype exactly as it is set out in the booklet. The document should look like the booklet has been “filed in” starting from “patient 1” (don’t incude all this preamble). Do make sure you answer all questions asked, i.e. you are asked each time to describe how you made your choices to build the karyotype, this is 5 marks
The question asking for the “correct karyotype” requires you to use the proper notation to describe the patients’ karyotypes (46 XY…etc). Use the mark scheme to work out how much to write, 15 marks for 15 points (about three paragraphs). DO reference and think about how you answer the questions.
Scan or photograph your signed karyotypes and insert them into one single document with the answers to the questions. Submit only ONE document or turnit in will over write everything but you last document.
What is Karyotyping?
This can be defined as the visual analysis of chromosomes.
These are prepared from a metaphase spread and are the way cytogeneticists often visualise a chromosome. This is the phase just before mitosis when the DNA has duplicated and condensed into visible structures which can then be segregated into the two daughter cells at cell division.
Chemical staining of these mitotic chromosomes produces patterns of bands on each chromosome.
The patterns are different and unique for each pair of chromosomes. This enables individual different chromosome pairs i.e. the 23 pairs in a diploid human cell to be distinguished from each other.
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