3rd Bachelor in Medical Biology - Cytology
Cytogenetic techniques including laboratory work
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ECTS Credits | 2 |
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Number of Hours (h/year) | 30 |
Teaching staff | HELLIN, Anne-Cécile |
Course Unit | Compulsory |
Term | Quad. 1 and 2 |
Code | PARA-D_GBMCY0006/3 |
Prerequisite | Basic notions of genetics ( nucleic acids structure), protein synthesis ( transcription and traduction), genetic code, mitosis and meiosis, gametogenesis. |
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Aims and Objectives | To know and understand principles of techniques of cytogenetic (caryotype, FISH, MLPA). To have cytogenetic clinical notions. To interpret instructions of chromosomic analysis and to adapt detection technique to researched abnormalities. |
Description | Introduction
Theorical background : DNA ; genetic code; from DNA to protein ( transcription and translation); mitosis and meiosis, gametogenesis. Chromosomes : structure of chromosome ; definition of karyotype ; classification of chromosomes. The different samples and their indications: constitutional diagnosis; prenatal diagnosis; oncological diagnosis The different technics of treatment : culture of samples ; treatment of one sample to obtain metaphases; realization of a cellular pellet; techniques of banding; special stainings; observations with microscope; criterias of karyotype analysis and norms of good practise. Definition and classification of chromosomal abnormalities: numerical abnormalities; structural abnormalities; homogenous karyotype and mosaicism; chromosomal markers; chromosomal aberrations; chromosomal variants. Molecular cytogenetics: definition; principle; applications; evolution; protocol; kinds of chromosomal probes; special techniques. Constitutional chromosomal abnormalities: different syndromes ( Down, Edwards, Patau ,Turner and Klinefelter syndromes ; other abnormalities of sexual chromosomes ; microdeletion syndromes; syndromes of chromosomal instability. Acquired chromosomal abnormalities: genetic and cancer (genetic susceptibility to cancer; the multi-step process of cancer; acquired chromosomal abnormalities ). |
Bibliography | DE GROUCHY J. et TURLEAU C., Atlas des maladies chromosomiques, 2e Ed., 1982. OFFIT K., Clinical cancer genetics - Risk Counselling & Management, 1998. CZEPULKOWSKI B., Analyzing Chromosomes, 2001.
GARDNER R.J.M. & SUTHERLAND G.R., Chromosome Abnormalities and Genetic Counselling, 2nd Ed., 1996. GERSEN S.L. & KEAGLE M.B., The Principles of Clinical Cytogenetics, 1999. HARPER P.S., Practical Genetic Counselling, 1998. SCHINZEL A., Catalogue of Unbalanced Chromosome Aberrations in man, 2nd Ed., 2001. ROONEY D.E. & CZEPULKOWSKI B.H., Human Cytogenetics, 1994. ROONEY D.E., Human Cytogenetics - Malignancy and acquired abnormalities, 2001. ROONEY D.E., Human Cytogenetics - Constitutional analysis, 2001. VERMA R.S. & BABU A., Human Chromosomes - Manual of basic techniques, 1989. CLARK M.S. & WALL W.J., Chromosomes - The Complex Code, 1996. BONTHRON D., FITZPATRICK D., PORTEOUS M. & TRAINER A., Clinical Genetics - A case-based approach, 1998. HEIM S. & MITELMAN F., Cancer Cytogenetics - Chromosomal and Molecular Genetic Aberrations of Tumor Cells, 2nd Ed., 1995. MARK H.F.L., Medical Cytogenetics, 2000. KORF B.R., Human Genetics - A Problem-based Approach, 2nd Ed., 1999. |
Teaching and Learning Methods | Lectures Laboratory work Lectures (24 h) – Tutorials (6 h) |
Assessment Methods | Oral examinations + practical participation |
Notes | Yes |
Language | French |
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