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Research or molecular genetic factors of Cystic fibrosis transmembrane conductance regulator (CFTR) gene in men with primary infertility
Bulgaria (AMSB) - Medical University of Varna, Varna
Department of Medical Genetics
Assos. Prof. Valeria Kaleva
Assoc. Prof. Trifon Chervenkov, MD, PhD
Type of Research Project
- Basic science
What is the background of the project?
Patients with a low count of spermatozoids will be selected. It is really important to know the genetic bases of infertility in order to improve conceiving. This testing is new for Bulgaria, so it is really important to observe homo- or heterozygote genotype for the Cystic fibrosis transmembrane conductance regulator (CFTR) gene and its relation to infertility. This research will also help in the medico-genetic consulting for families with infertility. By the end of the research it will be known if a mutation in the CFTR gene has a connection to the concentration of spermatozoids in the people who carry it.
What is the aim of the project?
The aim of the research is to find the role of the genetic changes in the CFTR gene as an etiological factor in men with primary infertility in order to improve genetic prophylactics in their families.
What techniques and methods are used?
The project will start with selection of men that are suitable for the analysis. The main criteria for them is to have less than 5x106/ml number of spermatozoids in their ejaculate. After that DNA samples will be prepared and analyzed via Real-time Polymerase Chain Reaction, Agarose gel electrophoresis, sequencing with Capillary Gel Electrophoresis. Analysis of the genotypes of the patients will be done to determine the number of homo- and heterozygote patients. The next step is to determine if there is a correlation between any of the CFTR genotypes and the number of spermatozoids. The final step of the project will be statistical analysis of the results with the help of specialized software.
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
What are the tasks expected to be accomplished by the student?
Students will be able to take part in every step of the project. They will be shown hot use the machines in the laboratory and how to do testing of biologic materials. They will Help with the organization of the work and everyone will have the opportunity to try Polymerase Chain Reaction probe testing. Chromosome will be observed under microscope. Karyotyping will also be done. The work is dynamic, involves observing and analyzing Deoxyribonucleic acid samples for different genomic and chromosomal mutations. Polymerase Chain Reaction has three main steps. Students will be shown how to do it and then be involved in the processes of denaturation, annealing an elongation.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
There is none theoretical teaching planned.
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 presentation
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
There are no special skills required.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
- S. Larriba et al. Molecular evaluation of CFTR sequence variants in male infertility of testicular origin International Journal of Andrology https://doi.org/10.1111/j.1365-2605.2005.00544.x
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