- •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
Ekogenetic
505.Ekogenetic - scientific discipline that studies
506. To environmental pollutants, mutagenic, are
507. By "environmental" diseases for which a direct causal link with certain environmental pollutants, are
508. Zones of ecological trouble in Kazakhstan are
509. Health of the population living in areas of environmental ill-characterized
510. Indicators of the influence of ionizing radiation on the genetic health of the population is
511. Increasing concentrations of heavy metals in the environment leads to
512. Price pollution consists of the following components
513. The indicators of the influence of ionizing radiation on the human body is
514. The environmental system includes
515. The concept includes biogeocoenosis
516. Ecological systems are the following stages of development
517. The system of state sanitary-epidemiological service are
518. State sanitary and epidemiological regulation includes
519. The documents state sanitary-epidemiological standardization
520. Hygienic standard
521. The sanitary and epidemiological requirements are established to
522. The sanitary and epidemiological requirements
523. To state registration in the field of sanitary welfare of the population to be produced for the first time and was first imported
524. Sanitary-epidemiological monitoring
525. For the sanitary protection of the territory of the RK are not allowed to be imported into the territory of the RK
526. In order to prevent the occurrence, spread of infectious and parasitic diseases should be
Pharmacogenetics
527.Farmakogenetic examines the effectiveness of drugs based on
528.Farmakokinetic drugs depends on the
529.Genetic control reactions to medications can be
530. Depending on the rate of inactivation of anti-tuberculosis drug isoniazid, distinguished group of people
531. Homozygous for the recessive allele of the gene are pseudocholinesterase
532.Metabolizm halothane - an inhaled anesthetic gas is controlled
533. Liver disease - a hereditary porphyria develops as a result
534. Hereditary methemoglobinemia - a
535. The hereditary liver disease - porphyria develops as a result of metabolic degradation products of hemoglobin (porphyrins) for medication
536. Receiving any medication provokes attacks of methemoglobinemia
537. The hereditary form of jaundice transmitted by
538. The hereditary form of jaundice developed after taking drugs
539. Acatalasemia - a rare hereditary disease, which manifests itself in individuals with mutant alleles in the genotype in
540. Acatalasemia - a rare hereditary disease, which manifests itself clinically when receiving
IV. Fundamentals of medical genetics
541. Research Methods for Medical Genetics
542. Methods of diagnosis of hereditary diseases
543. Methods of prevention of hereditary diseases
544. Probability of birth of sick children with the autosomal recessive disorder in marriage
heterozygous parents of
545. Hemophilia - X - linked recessive disease. If the mother - the bearer (HNHh) hemophilia gene, then the probability of the sons of Hemophilia
546. Hemophilia - X - linked recessive disease. If the mother - the bearer (HNHh) hemophilia gene, then the probability of the daughters of hemophilia
547. Hemophilia - X - linked recessive disease. Determine the genotype of a woman
hemophiliac
548. Color blindness - X - linked recessive disease. If the mother-bearer (HDHd) color blindness gene, then the probability of blindness in children of equal
549. In newborn infants, there are mutations
550. In genetic counseling resulted in a child aged 4 years, with moderate
mental retardation. On examination, set flat face,
Mongoloid slit eyes, epikant, poor location of the ear, etc. At
cytogenetic study of the karyotype of the child 47, XY (21 +). Define the diagnosis
551. In the antenatal clinic the woman 30 years, with complaints of primary amenorrhea, infertility. On examination, short stature (145 cm), wing-folds on the neck, hypoplasia of the secondary sexual signs of. cytogenetic study found a karyotype 45, XO. Define the diagnosis
552. newborn observed multiple malformations of the urinary and respiratory systems. Draws attention to a kind of a baby crying. For cytogenetic study found 46, XY (5p). Put a diagnosis
553. In the medical-genetic consultation asked a pregnant, 45 years old. In the prenatal study, ultrasound identified multiple malformations of internal organs in the fetus, fetal karyotype 47, XY (13 +). Put a diagnosis
554. Syndromes are accompanied by changes in the number of sex chromosomes
555. The cause of disease gene mutations
556.Etiologic monogenic disease mutations are accompanied by
557. By hereditary hemoglobin disorders are
558. Monogenic inheritance of the disease by type of classified
559. Specify a polygenic disease
560. To include hereditary fermentopathy
561. Warning signs of clinical disease has been successfully applied for
562. The patient, an increase of the liver, and spleen. When clinical and laboratory study found a sharp decrease in the level of tserruloplazmina in the blood. Place the diagnosis of the disease
563. Mode of inheritance of the disease an autosomal dominant with incomplete dominance. In homozygous disease is a severe form, is observed in heterozygotes subclinical form. In the study of blood marked change in the shape of red blood cells. Put a diagnosis
564. For multifactorial diseases are
565. It is characteristic of diseases associated with a change in the number of autosomes
566. Methods of treatment of chromosomal diseases
567. Methods of diagnosis of chromosomal diseases
568. The main clinical and morphological features of Down syndrome
569. Metabolic diseases are diagnosed using the methods
570. Inheritance of hemophilia
571. Children of single parents in the preparation of a pair of pedigree are called
572. Violations of the number of chromosomes diagnosed by
573.Amniotsentez - is
574. Using the genealogical method can be set
575. Determine the combination of direct methods for prenatal diagnosis
576. The timing for amniocentesis
577. For invasive methods of prenatal diagnosis are
578. Screening programs are divided into
579. Medico-genetic counseling is shown
580. For an autosomal recessive trait characterized by the type of inheritance
581. For non-invasive methods of prenatal diagnosis is
582. For X-linked recessive trait characterized by the type of inheritance
583. Prenatal diagnosis by amniocentesis is carried out
584. For an autosomal dominant trait characterized by the type of inheritance
585. By means of cytogenetic methods can be found
586. Hereditary resistance to biological factors - malaria
plasmodia observed in
587. Hemolytic anemia occurs in some people with eating beans
due to a shortage of the enzyme
588. By indirect methods of prenatal diagnosis of hereditary diseases is
589. The cause of chromosomal diseases
590. Which of the diseases related to chromosomal
591. For monogenic diseases is
592. For diseases with a genetic predisposition is
593. The interaction of genetic and environmental factors of the environment leads to the development of the disease
594. Medico-genetic counseling - a
595. Statement for genetic counseling
596. Prospective counseling
597. For non-invasive methods of prenatal diagnosis are
598. Prenatal diagnosis by amniocentesis is characterized by
599. Preimplantation diagnosis of
600. Screening Program
601. Indications for CIM
602. Retrospective advice
603. Prospective medical and genetic counseling is shown
604. Medical confidentiality is
605. The transfer of information constituting a medical mystery to others allowed
606. The transfer of information constituting a medical secret to others, is not allowed
607. Submission of data representing medical secrecy, without the consent of the patient is allowed
608. Submission of data representing medical secrecy, without the consent of the patient may
609. Conditions of medical confidentiality
610. The state guarantees the right of citizens of the RK
611. The state guarantees the right of citizens of the RK
612. Citizens have the right to RK
613. Citizens have the right to RK
614. A woman has the right to
615. The right to maternity protection is guaranteed
616. Citizens are obliged to
617. pregnant women
618. The patient has the right to
619. Information can be hidden from the patient
620. Types of inheritance of genetic diseases
621. Proband ill hypertension. His mother is ill and hypertension, according to the mother
proband is known that the grandfather of the proband and his brother is sick, that is, proband and his uncle is sick
hypertension. The father of the proband is healthy, his parents and siblings as well. spouse
proband is healthy and comes from a healthy family. Determine the nature of the disease
622. Penentrantsу an autosomal dominant trait, 50%. What is the probability of a sick child if one parent is healthy and another sick and heterozygotes
623. Penentrantsy an autosomal dominant trait, 50%. What is the probability of a sick child if one parent is healthy and another sick and homozygotes
624. Normal hearing person develops as a result of complementary
the interaction of two dominant genes (A and B). Specify the genotypes of the deaf
people
625. Normal hearing person develops as a result of complementary
the interaction of two dominant genes. Specify the genotypes of people with normal
hearing
626. Some forms of polydactyly (six-fingered) are inherited in an autosomal
dominant type. What is the probability of sick children in a marriage two
heterozygous for this gene
627. Achondroplasia is an autosomal dominant disease. What is the theoretical
probability of sick children in a marriage two heterozygotes
628. One form of hereditary deafness is caused by a recessive gene. from marriage
a deaf woman with a normal male child was born deaf. What is the
likely to give birth to a healthy baby
629. The woman, homozygous for the gene of phenylketonuria, but has no clinical
signs of illness, entered into marriage with a heterozygous male. What is the probability
birth of sick children in the family
630. Phenylketonuria is inherited in an autosomal recessive manner. Population frequency
1:10,000 newborns. What is the frequency of the recessive gene in the population
631. Phenylketonuria is inherited in an autosomal recessive manner. Population frequency
1:10,000 newborns. What is the frequency of the dominant gene in the population
632. It is characteristic of autosomal dominant inheritance
633. It is characteristic of autosomal recessive inheritance
634. It is characteristic of autosomal recessive inheritance
635. Characteristic of X-linked recessive inheritance
636. In the medical-genetic consultation asked a pregnant woman whose
a child with isolated cleft lip. What type of hereditary
pathology is likely this defect
637. In the medical-genetic consultation asked a pregnant woman, who had a son
with hemophilia. The father of the child is healthy, the brother of a pregnant hemophilia. Sex of fetus
is unknown. Determine the genetic risk of disease
638. In the medical-genetic counseling the couple appealed. My husband is sick
achondroplasia (an autosomal dominant disorder) and heterozygotes. The first child
the family is healthy. Gene penetrance of 80%. What is the genetic risk for the next
Child
639. In the medical-genetic consultation asked a mother of two children of different patients
sex with the same type of pathology of the respiratory system. The parents are healthy. Determine the type of
inheritance and the risk of having a second affected child
640. In the medical-genetic consultation asked a couple having
sick child with an autosomal dominant disease. The parents are healthy, age
wife - 25 years old, her husband - 45 years. Identify possible causes of child illness
641. In the medical-genetic consultation asked young couple who are in
Incestuous marriages without children. Which character would be health
genetic counseling and evaluation of genetic risk in offspring
642. In the medical-genetic counseling the woman having a child with
Down's syndrome. Karyotype of the child 46, t 13/21. What the study recommends
consultant
643. The selective (selective) screening of inherited metabolic diseases
conducted in groups of children with
644.V medical-genetic consultation asked the couple where the husband
there is a disease transmitted only through the male line. Determine the type of
inheritance of the disease
645. Some forms of cataracts are inherited in an autosomal dominant manner.
Penetrance of the gene is 50%. What is the probability of contracting cataracts in children
family where one parent has this pathology and heterozygotes
646. In genetic counseling of the family revealed two cases of children with
autosomal dominant disease. Grandpa and Aunt children are sick, his father - is healthy.
Penetrance of the gene is 80%. What is the risk of re-birth of sick children
647. Massive screened programs are aimed at
648. The terms of the mass programs are screened
649. Mass newborn screening to detect genetic defects
exchange is carried out in terms of
650. Screening programs can identify newborns hereditary
disease
651. The methods of prevention of hereditary diseases is
652. By Mendelian hereditary diseases are
653. Hereditary disease caused by a mutation in a single gene, are characterized by
signs of
654. Chromosomal disease due to changes in the number and structure of chromosomes,
appear superficially
655. Polysomy in the sex chromosomes are characterized by
656. Some people have a high sensitivity to ultraviolet rays
causes xeroderma pigmentosum, which is characterized by
657. A normal human ear is controlled by two dominant genes (E and D),
located in different pairs of chromosomes. Determine the type of interaction and genotypes
deaf individuals
658. Determine the type of trait inheritance, if he appears in a generation
regardless of sex, are born to healthy parents sick children
659. The genetic risk can be
660. The theoretical risk is calculated for
661. The empirical risk is calculated for
662. Autosomal inheritance of disease leads to the birth family
663. For a polygenic disease characterized by
664. The most important features of hereditary diseases are
665. Chromosomal diseases can be identified by the following clinical signs