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Mutation screening of Cystic fibrosis (CF) patients for new mutations.
Hungary(HuMSIRC)- University of Szeged,Szeged
Department of Pediatrics, University of Szeged, Kor
Prof. Dr. S
Em&#337;ke Endreffy PhD, Zolt
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Aim:In this project we would like to identify new mutations in CF diagnosed patients fom our department whom did not carry any of the 19 most common mutation we routinely screen for. The DNA samples are amplified for each exons from intronic regions and then analyzed by a DHPLC instrument for unknown mutations. The identified alleles will be sequenced for new polimorphisms and mutations.
Methods: DNA extraction, agrose gel electrophoresis, PCR techniques, DHPLC
What is the aim of the project?
In this project we would like to identify new mutations in CF diagnosed patients fom our department whom did not carry any of the 19 most common mutation we routinely screen for.
What techniques and methods are used?
DNA extraction, agrose gel electrophoresis, PCR techniques, DHPLC
What is the role of the student?
What are the tasks expected to be accomplished by the student?
basic lab work
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a poster
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
It is required that the student allready had his molecular biology studies so he knows the basic of genetics. All the specific practical and theoretical knowledge is advantage but not strictly requir
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months)
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