- •1.1. Overview
- •1.7. For information about the teachers:
- •1.8. Contact Information:
- •2. Program:
- •2.1. Introduction
- •2.2. The purpose of discipline:
- •2.3. Learning objectives:
- •2.4. Learning outcomes:
- •2.5.Prerequisites and Postdetails.
- •2.6. Summary of discipline:
- •2.7. Thematic plan of lectures, practical classes, srps and the siw Thematic plan of lectures
- •The practical classes thematic plan
- •Topical Plan for siwp
- •Thematic plan for independent student work
- •2.8. Tasks for independent students work : Topics for independent work of students:
- •2.9 Recommended literature :
- •In Russian :
- •In Kazakh:
- •In English :
- •2.11. Criteria and assessment rules:
- •The evaluation system of students' knowledge
- •Competence assessment in discipline "Molecular Biology and Medical Genetics," for 1 course students "General Medicine" specialty.
- •2.Check control
- •Presentation
- •Assessments grading scale
- •It is discussed and approved at faculty meeting from April "12" of 2012 y., the protocol No. 15
- •1. Theme: Implementation of heriditary information
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature
- •6. Control questions (feedback):
- •Specialty – general medicine
- •Year 2012
- •Theme: Introduction to Molecular Biology. Molecular Principles of Heredity
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Theme: Gene Molecular Biology
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •Theme: Realization of Hereditary Information. Dna Replication
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Problem
- •Theme: Transcription
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Theme: Regulation of Gene Expression
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •8.1.Control:
- •8.2. Rating of competence skills.
- •Theme: Genetic Apparatus of the Cell
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •7.2. Evaluation of competence – practical skills
- •Theme: Mitotic cycle, Mitosis, Meiosis
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •7.2.6. Solution of standard tasks:
- •1. Theme: Heredity. Types of inheritance. Independent monogenic inheritance of characteristics
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge):
- •7.2. Assessment of competence skills
- •7.3. Assessment of the skills of self-improvement:
- •1.Theme: Heredity. Types of inheritance. Monogenic traits linked inheritance
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •7.1. Assessment of cognitive competences (knowledge):
- •1. Theme: Effects of gene
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge)
- •7.2. Assessment of competence skills
- •1. Theme: Cellular mechanisms of ontogenetic development
- •2. Purpose:
- •3.Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •1.Theme: Genetic mechanisms of ontogenetic development
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •7.2. Assessment of competence skills
- •1. Title: Basics of Genetics populyatsioinoy
- •6. Handout: Test questions. 7. Literature:
- •1.Theme: Fundamentals of Ecological Genetics
- •4. Key questions the theme:
- •6. Литература:
- •7. Control:
- •7.1. Assessment of competencies - knowledge.
- •Some environmental disease caused by
- •Air pollution
- •Contamination of drinking water
- •Intestinal infections
- •7.1.6. The decision of situational problems:
- •7.2. Assessment of competence - legal competence.
- •Theme: Fundamentals of Pharmacogenetics
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •4.Osnovnye topic questions:
- •Specialty-general medicine methodology recommendation for independent work teacher-led
- •8. Control:
- •8.1.3. Filling out tables:escribe the types of apoptosis
- •1. Theme: Variability not hereditary and hereditary.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •7.2. An assessment of competences – legal competence.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •3.Learning objectives:
- •5.Key questions the theme:
- •7. References:
- •8. Control:
- •3.Learning objectives:
- •5.Tasks related to:
- •6.Handout material: test-2 version with 10 questions
- •7.References:
- •7.3.Konichev a .S. Sevyastanova g.A. Molecular biology m. 2005 p.N 150-196.351-379.
- •7.4.Teylor d.Grin. N.Staut u.Biology m.2002 part 3 p.N 215-242.
- •8. Control:
- •8.1.1 Quiz on topics.
- •8.1.5.The solution to the problem of restriction of dna.
- •8.1.6. Working with the human genomic databases: problem solving.
- •8.3. Control:
- •1 . Title: Control of landmark forum: "Molecular Biology of the Cell"
- •7. References: The main
- •Theme: Human Hereditary Diseases. Chromosomal Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Impairment related to different types of human aneuploidy
- •Evaluation of competence – practical skills
- •Theme: Human Hereditary Diseases. MonogenicMendelian Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence –communicative skills
- •Solution of situational problems
- •Title: Monogenic nonmendelian human disease
- •Aims: To generate in students the knowledge of nonmendelian monogenic human disease.
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •Theme: Polygenic (Multifactor) Human Diseases
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Collection of anamnesis (determine the data that permit to reveal families with increased risk of birth of a child with hereditary pathology)
- •In case of chromosomal diseases In case of genic diseases
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •6. Handout: test questions.
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •6. Handout: test questions.
- •7. References:
- •8. Control:
- •1.Theme: Section control on the section "Basis of medical genetics"
- •3.Tasks of teaching:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •Title: Monogenic nonmendelian human disease
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •6. Handout: test questions.
- •7. References:
- •6. Handout: tests
- •7.Bibliography:
- •8. Control:
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •3.Tasks of teaching:
- •5. The main themes:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •1. Theme #1. Telomers. Telomerase activity
- •3. The tasks:
- •5. Performance criteria:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #5. Genomics, proteomics and metabolonomics
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •9. Check:
- •1. Theme #6. Cloning of organisms and cells
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #9. Molecular and genetic mechanisms of aging
- •3. The tasks:
- •5. Requirements to presentation making up:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #13. Human genetic passport
- •3. The tasks:
- •5. Requirements to abstract work design:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •Control and measuring means for the assessment of knowledge, skills in molecular biology and medical genetics
- •2012 Year
- •I. Examination questions:
- •II. The test exam questions:
- •Molecular biology
- •Replication
- •II. Molecular Cell Biology
- •Cell Cycle
- •Ontogenezis
- •Mutations
- •Oncogenetics
- •III. Fundamentals of general genetics
- •Ekogenetic
- •Pharmacogenetics
- •IV. Fundamentals of medical genetics
- •The list of questions to assess the practical skills: Molecular biology
- •Genetics
7. References:
The main:
7.1. Bochkov NP Clinical genetics of M:, 2004
7.2. Genetics. Under Ivanov VI editor M:,2006,
7,3. I Ginter EK "Medical Genetics" M: 2003,
7.4. F Zhimulev "General and Molecular Genetics", Novosibirsk,
7.5. Mushkambarov N. "Molecular Biology" M: 2003
7.6.Fuller, DM, Dennis Shilds.Molekulyarnaya cell biology. Guidelines for vrachey.M: Bean Press, 2006,
7.7 Medical Biology and Genetics. Textbook edited by prof. Kuandykova EW, Almaty, 2004 - / pages 179-184.
7.8. Kuandykov EW Fundamentals of general and medical genetics. Lectures, Almaty/2010, pp. 192-200.
Additional:
F.Ayala, J. Kayger. "Modern genetics" M: World of 1988
8. Control:
8.1.Rating of competences - knowledge
8.1.1. Quiz on topics.
8.1.2.Tests. 12variants (each variant -10questions).
8.2. Rating of competence skills.
8.2.1. Case decision( 7.4. Medical Biology and Genetics. Textbook edited by prof. Kuandykova EW, Almaty, 2004 - / 202-205. Tasks №15-25)
1. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the father and mother are healthy, two sons are sick, aunt and paternal grandfather sick. Penetrance of the gene, 80%.
2.45 years old man has impairment of memory and attention. the lowering of intelligence during the following year he developed involuntary movements of the fingers and toes and facial muscles such as grimacing. Prior to that he was healthy: his parents were killed in a car accident. He has a daughter who is healthy. DNA analysis showed the presence of 43 repeats of the triplet CAG. Determine the type of mutation.
3. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of the sick child in a family in which healthy parents consist in incestuous marriages (cousin siblings), the first pregnancy ended with the spontaneous abortion, the second – dead birth(the sex is unknown), the third birth of the sick girl.
4. List the main types of mutations that explain the mechanisms of their formation and clinical signs of Down's syndrome.
5. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of a sick person in the family, in which parents are healthy, daughter is healthy- bearer of mutant gene, 2 sons are sick.
6. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with Patau syndrome.
7. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the husband is healthy, the wife is-sick, 2 children are healthy: a son and a daughter , 2 children are sick: a son and a daughter. The mutant gene is localized in the X chromosome.
8. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with Edvard’s syndrome.
9. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of the sick child in a family in which healthy parents consist in incestuous marriages (aunt and uncle) and children are sick: a daughter and a son.
10. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with the syndrome Shershevsky-Turner.
11. To build a family tree, to define genotypes of all members of a family tree who have parental genotypes 2 and 3 having the blood group of ABO (homozygote mother, father-heterozygote) genotypes and types of children's blood, antigens in red blood cells, antibodies in the serum of all family members.
14. 2 years old boy was sent to the pediatric clinic for evaluation of the causes of growth retardation. In early childhood, the child had diarrhea and abdominal cramps that resolved with the replacement of the mixture. When added to the diet of regular food, the child had offensive stools containing undigested food particles. His weight and height were lower while being observed. Define method of diagnosis. Define the mode of inheritance of the disease.
15. . To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the father is healthy, mother is sick, the daughter is healthy, but the son is sick. Penetrance of the gene, 30%.
16. In an unrelated parents' marriage a boy was born after 38 weeks . Shortly after the birth parents and the nurse drew attention to the muscular hypotonic, and poor appetite, lethargy, weak cry, decreased reflexes, poor sucking. Parents and older sister are healthy. By karyotyping method in situ a deletion of chromosome 15q11-q13 was revealed by hybridization . Place a diagnosis.
17. Probed - a healthy woman. Her sister is healthy, and two brothers have Daltons. Mother and the father of probed are healthy. Four sisters, mother of the probed are healthy, their husbands are healthy. The grandmother of the probing’s maternal well, my grandfather suffered from color blindness. From the color-blind father of the probed patients were observed. Make a family tree. Define: a) the mode of inheritance of this pathology and the possible genotypes of individuals in the family;
b) The probability of birth in the probed patients colorblind children under the condition that she marries a healthy man;
c) what answer must be given to a probed by physician-geneticist ?
18. Propends have a night blindness. His two brothers are also sick.There is not anyone who suffer from blindness from father’s side. Mother of the probed is sick.2sisters and 2 brothers are healthy. They have only healthy children. It is known that from mother’s side: the grandmother is sick, the grandfather is healthy; great-grandfather suffered from blindness. The probing’s wife, her parents and relatives are. Make a family tree. Define: a) mode of inheritance of this pathology and if possible, genotypes of individuals in the family; b) the probability of birth in the probed of sick children if he marries a healthy woman; c)what advice should give a physician-geneticist?
19. 6-year-old boy is undergoing tests in connection with mild delay health. He had difficulty in climbing stairs, running, reduced strength and endurance during intensive exercise. His parents, two brothers and sisters are completely healthy. The level of CK in serum was 50 times higher than normal. Place a diagnosis. What is the risk of having another affected child in the family.
To determine mode of inheritance of the disease, such as the inheritance of the disease, the genotype of the probed and their parents and siblings, the probability of birth of sick children if he marries a healthy woman.
20. A young couple who are in incestuous marriage without children came to the medical-genetic consultation. What medical-genetic counseling should be given and evaluation of genetic risk of offspring’s?
21. Make a family tree. Define: a) mode of inheritance of this pathology and if possible, genotypes of individuals in the family; b) the probability of birth in the probed of sick children if she marries a healthy man;
22. The patient has an increase of the liver and spleen. While being observed at clinical and laboratory a sharp decrease in the level of ceruloplasmin in the blood was observed. Put a diagnosis and determine a possible method of treatment.
23.A young couple comes to a medical-genetic consultation . The husband is ill with achondroplasia (an autosomal dominant disorder) and heterozygotes. The first child in the family is healthy. Penetrance of the gene, 80%. What is the genetic risk for the next child.
7.3. Assessment of competence, communication skills.
7.3.1. Ability to properly present the material in the conversation, ability to work in a team.
SPECIALITY – GENERAL MEDICINE
THE CHAIR OF MOLECULAR BIOLOGY AND
GENETICS
METHODICAL RECOMMENDATIONS FOR STUDENTS’ INDEPENDENT WORK
COURSE: 1
DISCIPLINE: MOLECULAR BIOLOGY AND
MEDICAL GENETICS
THE AUTHORS: teachers of the chair
2012
Discussed and approved at the chair meeting on April “12”, 2012, the protocol #15
The head of the chair, professor Kuandykov E.U.