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(Cluj-Napoca) High resolution melting analysis in non-syndromic deafness
Romania (FASMR) - University of Medicine and Pharmacy "Iuliu Hatieganu", Cluj-Napoca
Medical Genetics Department
Dr. Radu Anghel Pop
Dr. Marius Farcas
Type of Research Project
- Basic science
What is the background of the project?
Please, provide the background of the project (Provide information about the project; min. 10 lines, max. 25 lines) Connexins play vital roles in hearing, including promoting cochlear development and sustaining auditory function in the mature cochlea. Adenosine Triphosphate (ATP) released by hemichannels may play a prominent role in cochlear function, connexin 26 being the principal contributor to the adenosine triphosphate release. Mutations in connexins expressed in the cochlear epithelium, connexin 26 gene (Cx26) and connexin 30 gene (Cx30), cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. Connexins function as gap junction channels and as hemichannels, which mediate intercellular and transmembrane signaling, respectively.
What is the aim of the project?
The objective of this project is to develop two High Resolution Melting (HMR) assays for the detection of mutations in the connexin 26 (Cx26) gene.
What techniques and methods are used?
The isolation of the Connexin 26 gene will be conducted using restriction nucleases. Unlike a protein, a gene does not exist as a discrete entity in cells, but rather as a small region of a much longer DNA molecule. These enzymes, which can be purified from bacteria, cut the DNA double helix at specific sites defined by the local nucleotide sequence, thereby cleaving a long double-stranded DNA molecule into fragments of strictly defined sizes. These fragments can then be used as a basis for partial purification of the gene from a mixture. Polymerase chain reaction (PCR) is a method used in molecular biology to make several copies of a specific DNA segment. Using PCR, copies of DNA sequences, in this case the Connexin 26 gene, are exponentially amplified to generate thousands to millions of more copies of that particular DNA segment. The next step will be to perform the high resolution melting (HRM) assay on the isolated and multiplied genes. This is a convenient method for gene scanning as well as genotyping of individual and multiple single nucleotide polymorphisms in the Connexin 26 gene.
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
- If the project includes “lab work”
- the student will take active part in the practical aspect of the project
- The tasks of the student will be performed on his/her own
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student is expected to shadow the supervisor, take notes of procedures, and learn protocols. The student will isolate genes using centrifugation techniques, will perform Enzyme-Linked Immunosorbent Assay (ELISA) tests and Polymerase-Chain Reactions (PCR) in order to determine whether the Connexin 26 gene is found in the compound, and to amplify. The genes will be genotyped by the student and correlated with previous found results. Thereafter, the student will perform his/her own experiments under supervision or individually. Use of lab journal and fore planning will be required.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
No. We will provide guidance and protocols once the student is in the lab. The student is encouraged to read about non- syndromic deafness and high resolution melting analysis to build his/her general background knowledge.
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 scientific report - The student’s name will be mentioned in a future publication
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Basic science skills are appreciated but not obligatory.The student should know how to correctly use a micropipette!
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) - Pre-Medical students from the American-British system - Students in biomedical fields - Dental medicine students (IADS members)
- Verselis VK. CONNEXIN HEMICHANNELS AND COHLEAR FUNCTION. Neurosci Lett. 2019 Mar 16;695:40-45. doi: 10.1016/j.neulet.2017.09.020. Epub 2017 Sep 14.
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