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Working with the human genomic databases: problem solving

1. NF1 gene mutation in humans causes a severe genetic disease, neurofibromatosis type 1. In which chromosome the gene is localized in human NF1?

- Complete a task by:

Online Mendel an Inheritance in Man (OMIM)

2. Hemophilia A sex-linked disease caused by mutations in the gene for factor VII coagulation krovi.Gen F8C-one of the largest human genes: contains 26 exons. In which chromosome the gene is localized at the person F8C?

- Complete a task by:

Online Mendelian Inheritance in Man (OMIM)

3. Cystic fibrosis (cystic fibrosis of the pancreas) - the most common monogenic hereditary disease in white men. The protein product of genatransmembranny regulatory protein cystic fibrosis-CFTR, a channel in the apical membranes of epithelial cells, through which the active transport of chloride ions. According to the literature the most majeure (diagnostically relevant) mutations in patients with CF are as follows: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K. Determine where localization of CFTR gene mutations and the following: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K в хромосоме человека.

- Complete a task by:

Online Mendelian Inheritance in Man (OMIM)

Human Gene Mutation Database (HGMD)

4. Phenylketonuria is one the most common autosomal recessive disease caused by an inherited gene defect, PAH, controlling the synthesis of liver enzyme phenylalanine hydroxylase. The incidence in Kazakhstan in the range 1 in 6000-10000 births. The most common type of mutations, single nucleotide substitutions (missense, nonsense and splice site mutations). Majeure with PKU is mutation R408W. Determine where PAH gene localization and gene mutation in the chromosome of R408 a person.

- Complete a task by:

Online Mendelian Inheritance in Man (OMIM)

Human Gene Mutation Database (HGMD)

5. Family breast cancer and ovarian cancer (BC) is diagnosed almost every 10th woman in Europe. Approximately 5-10% of BC are hereditary. Mapped and identified two genes, onkosupressora-BRCA -1 and BRCA -2, in which mutations are the cause of BC and ovarian cancer families. Which chromosome in humans is localized genes BRCA -1 and BRCA -2?

- Complete a task by:

Online Mendelian Inheritance in Man (OMIM)

8.2 Rating of competence- legal competence

8.2.1. Rights and responsibilities in health care and guarantees of their security (Chapter 16, Code of the Republic of Kazakhstan "Nation health and public health system" in 2009)

8.3. Control:

8.3.1.What is a gene?

8.3.2. The value of the "human genome" in medicine

8.3.3. List the methods of DNA analysis

8.3.4. How to use the genomic databases of man?

Lesson number 5

1. Title: Control of landmark forum: "Molecular Biology of the Cell"

2. Aims: To determine the level of learning and understanding the students the material of lectures and practical sessions on the structure and functioning of the genetic material of cells, causes and mechanisms of mutation, the molecular mechanisms of DNA repair. the role of genetics of oncology

3. Learning objectives: through oral questioning, testing, and typical problems to determine the level of assimilation and understanding of students in this section.

4. Form of Locations:
quizzes aimed na asking students understand the nature of goals and objectives of the training, skills, briefly, clearly and logically set out. and the ability to 'represent the digested material in the form of diagrams. graphs, drawings, testing and subsequent analysis of errors in the work group: an explanation and demonstration of problem solving, filling schemes.

5.Tasks related to:
5.1. Localization of the genetic material in the cell (nuclear, cytoplasm! The algebraic).
5.2. Levels of structural and functional organization of the genetic material of cells and mechanisms of their formation.
5.3. Nukleogistonnes organization of genetic material.
5.4. The chemical composition of chromosomes. Chromatin, the one-and heterochromatin. characteristic.
5.5. 'Gily chromosomes. Denver and the Paris nomenclature of chromosomes.
5.6. Karyotype determination, medical and genetic significance. 5.7 Cell cycle, the definition of the periods.
5.8. Mitoticheeky cycle definition, period.
5.9. Mitosis, characteristic.
5.10. Gametogenesis. Ootepez, spermatogenesis.
5.11. Msyoz. characteristic.
5.12. General biological. genetic and medical importance of cell division. 5.1.1. The mechanisms of genetic regulation mitotic cycle.
5.14. Mechanisms of genetic control mitoticheeshgo cycle.
5.15. The causes and mechanisms of disorders migoticheskogo cycle.
5.16. Medical consequences of violations mitoticheekoto cycle.
5.17. Genetic variation
5.18. Rekombinativpaya variability
5.19. Mutagenesis, mutagenic factors.
5.20. Mutational variability of the classification
5.21. Genomic and chromosomal mutations, their role is the development of chromosomal diseases.
5.22. The Law of 1'K 23.04,1998 N 219 - ["On radiation safety of population"
5.23. Code of 09.01.2007 N 2 12 - 111 "Environmental Code" (Chapter 40)
5.24. Chromosomal mutation, causes, classification.
5.25. Chromosomal mutations, the mechanisms of occurrence.
5.26. Gene mutation, causes, classification.
5.27. Mutations in type) replication errors, mechanisms, and development.
5.28. Mutations in the type of shift the reading frame, the mechanisms of development.
5.29. Mechanisms of development of hereditary diseases in different types of hereditary diseases.
5.30. Repair, types and mechanisms of repair: - photo reactivation

- Excision repair;
- Postreplikativnaya repair;
- Miss - Match repair;
- 308 - reparation.
5.31. Antimutatsionnye barriers.
5.32. Biological and medical significance of DNA repair.
5.33. Apoptosis, a definition.
5.34. The causes apoptosis.
5.35. The stages of apoptosis.
5.36. Genetic control of apoptosis.
5.37. The medical significance of apoptosis.
5.38. Carcinogenic factors, classification, and their role in causing malignant transformation of cells.
5.39. Protonkogeny and oncogenes, the concept, role in the origin and development of malignant transformation of cells.
5.40. Oncoviruses, and their role in causing malignant transformation.
5.41. Malignant tumors, stage of development property.
5.42. Antionkogeny, the mechanisms of antitumor protection.
5.43. The value of genetics in modern oncology.
5.44. The structural organization of the human genome. Genomics and its direction.
The "human genome" and its significance.
5.45. Genetic engineering technology, Recent advances in genetic engineering and its prospects.
5.46. The main stages of the molecular analysis of DNA. Molecular genetic methods: 1SCHR. restriction of DNA, blot gibrizidapii methods, DNA cloning. sequencing.
5.47. The main areas of application of modern molecular genetic techniques and technologies in medicine.
5.48. Isolation of DNA from the genome of a given gene.
5.49. The transfer of genes into cells of other organisms. 5.50.Transgennye plants.
5.51. DNA diagnostics.
5.52. Hematherapy hereditary diseases.
5.53. Gene and cell biotechnology: achievements and prospects.
5.54. Methods for creating traiegennyh organisms, vectors for gene transfer.
5.55. Biosecurity gsiomodifitsirovanpyh organisms (GMOs): problems and solutions.
5.56. The use of GMOs in medicine.
5.57. The structure of the eukaryotic genome. Mobile elements of the genome.
5.58. Genomics and its direction. \
5.59. Proteomics - a new direction in biology and medicine of the XXI century.
5.60. Metabolite th ika and the development of new drugs.
5.61. Bioinformatics and its prospects.

6. Teaching methods: a combined method of teaching (conversation, solving typical problems)

7. References:
The main