Determining genes and genetic mutations associated with infertility
Bulgaria (AMSB) - Medical University of Sofia, Sofia
Department of Medical Genetics
Prof. Draga Toncheva
4 weeks
Cities/Months Jan Feb Mar Apr May Jun Jul Augt Sep Oct Nov Dec
No No No Yes Yes Yes No No No No No No
Type of Research Project
- Clinical Project without Laboratory work
What is the background of the project?
Infertility is an increasing health problem, affecting nearly 7% of all couples. Clinically, it is a highly heterogeneous with a complex etiology that includes environmental and genetic factors. It has been estimated that nearly 50% of infertility cases are due to genetic defects. Constitutional chromosome aberrations are the most frequent cause of infertility. Prothrombotic disorders have been associated with the pathophysiology of many obstetric complications of placental origin.Recurrent pregnancy loss (RPL) is a common health problem, affecting ca. 5% of women at the reproductive age. The most widely studied polymorphisms, associated with prothrombotic status are G20210A of prothrombin gene (FII G 20210A) and G 1691A of factor V gene (Factor V Leiden, FVL) and C677T of methylene tetrahydrofolate reductase gene (MTHFR C677T).
What is the aim of the project?
What is the aim of the project? (Highly specific: purpose?) The project aims to establish the frequency of genetic factors in disorders of sex development, infertility and recurrent miscariages.
What techniques and methods are used?
Methods: Cytogenetic analysis on peripheral blood samples of couples diagnosed with: infertility, ≥2 misscarriages, ≥1 stilbirth, termination of pregnancy due to fetal congenital abnormalities. ∙ Culture cultivation, ∙ karyotyping, Molecular genetic analysis for inherited thrombophilia for female patients with: ≥ 1 stillbirth, ≥ 1 second trimester pregnancy losses, ≥ 1deep vein thrombosis, ∙ Deoxyribonucleic acid extraction by commercially available kits and standard phenol-chloroform extraction. ∙ allele specific real time Polymerase chain reaction
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?
To take part in taking medical history of patients, Taking part in Deoxyribonucleic acid isolation, Taking part in real time-Polymerase Chain Reaction analysis Taking part in lymphocyte culture cultivation Taking part in staining chromosome spreads Basic karyotyping Collecting and processing obtained results Analysis of obtained results Interpretation of obtained results Reading provided articles and recommended literature
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes, preliminary seminars on: methods and procedures for DNA extraction basics of RT-PCR analysis basics of cytogenetic analysis
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- No specific outcome is expected
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Being familiar with general rules for good laboratory practice. □ Subjects passed: Genetics, Medical Genetics. Previous experience with: □ Certificate of: □ None
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts:
- Medical students
- Pre-Medical students from the American-British system
- Zorrilla M; Yatsenko AN.. The genetics of infertility: Current status of the field. Curr Genet Med Rep. 2013;1(4):247–260; doi: 10.1007/s40142-013-0027-1