---细胞生物学与遗传学教研室-

-细胞生物学与遗传学教研室-

学科简介

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		学习记录

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rding to the arrangements of teaching Period, prepared the mastery, familiarity and understand etc. of three levels teaching requirements, aims to provide a main line of teaching and studying, another aims to help students effectively learning the essence of this course. and successfully pass the course examination. Not in the outline content is student study by themselves. the experiment course purpose is train the student to analyze question, judgment problem, solve problem ability.
,ent is student study by themselves. the experiment course purpose is train the student to analyze question, judgment problem, solve problem ability.
,Subject：medical genetics
Teaching object：6-years clinic undergraduate teached by English
Teaching hour：theory 19 hours, experiment 9 hours
Contents：1.5

I. The course nature and purpose
Medical Genetics is an important basic course in medical education. today, human genetic character and heredity, especially the research of human diseases and genetic problems has spread to the fields of basic medicine and clinical medicine. it is mainly because genetic disease to human health is posing a growing threat, some is diseases or frequently-occurring disease. It directly related to the improvement of population quality. How to apply the principle, knowledge and technology of genetics to reveals the transfer law, pathogenesis of various genetic disease, and then to establish the diagnosis, prevention and treatment measures to reduce the incidence of genetic disease in the crowd, improve the human genetic quality, it is become the task of medical genetics and long-term goals.
The teaching outline according to the arrangements of teaching Period, prepared the mastery, familiarity and understand etc. of three levels teaching requirements, aims to provide a main line of teaching and studying, another aims to help students effectively learning the essence of this course. and successfully pass the course examination. Not in the outline content is student study by themselves. the experiment course purpose is train the student to analyze question, judgment problem, solve problem ability.

II. theory course teaching content and the basic requirements
Introduction Period：0.5
-Describe
1. The definition of Medical Genetics.
2. The concept of genetic disease, characteristics and classification.
-Explain
1. The concept of a health and disease.
2. The occurrence of the disease On Relations between genetic factors and environmental factors.
- Understand
1. The major events of medical genetics in the development history（History of Genetics）
2. The brief introduction of epigenetics.

Human genes Period：1
-Describe
1. the chemical nature of the gene.
2. the structure and expression of split gene.
-Explain
1. the functional classification of genes（solitary gene, gene family, pseudogene, tandemly repeatd sequence）.
2. the composition of the genome（DNA sequence classification）
⑴ unique sequence
⑵ repetitive sequence
① highly repetitive sequence（satellite DNA, minisateliite DNA, microsatellite DNA）
② moderately repetitive sequences[Short interspersed nuclear elements（SINEs），long interspersed nuclear elements（LINEs）]
-Understand
1. the achievement of Human Genome Project have been achieved.
2. paternity test

Gene mutation Period：0.5
-Describe
1. Concepts and features of gene mutation.
2. the form of gene mutation.
-Explain
1. the inducement factor of gene mutation.
2. the molecular mechanism of gene mutation.
-Understand
1. Repair method of DNA damage.
2. Repair defects causes the diseases.

Inheritance of monogenic disorders Period：4
-Describe
1. drawing of pedigree
2. the characters of inheritance patterns of AD, AR, XD, XR and Y-lined and the application in inheritance pattern analysis and estimation of Risk in The Offspring of some given monogenic disorders
3. Definition of Coefficient of Relationship, application of Coefficient of Relationship in estimation of Risk in The Offspring of Consanguineous Marriage
-Explain
1. dominance, irregular dominance（Penetrance）, codominance, delayed dominance, and the applications with which some special inherited case be explained；
2. Explain some special inherited case with expressivity and genetic heterogeneity
3. The representative case of AD, AR, XD and XR.
-Understand
the other factors that affect the analysis of monogenic disorders （pleiotropy, anticipation, genetic imprinting, sex-influenced inheritance and sex-limited inheritance）

human chromosome, Chromosome Aberration and Chromosomal Disease Period：4
Describe：
1. X chromatin and the Points of Lyon hypothesis.
2. The number, structure, type and group of human chromosome.
3. The analysis and the description of karyotype of non-banding and banding.
4. An international system for human chromosome nomenclature.
5. The type and mechanism of euploid change and aneuploidy change.
6. The type of Chromosome structural Aberration, and the analysis and the description of Brief Karyotype and Detailed`Karyotype.
Explain：
1. The main distinction of Euchromatin and heterochromatin
2. The main distinction of Constitutive heterochromatin and Facultative Heterochromatin.
3. The common clinical characteristics of Chromosomal Disorder, and the Karyotype Indication of typical Autosomal Disease and Sex Chromosomal Disease.
Understand：
1. The concept of chromosomal polymorphism.
2. The causative factors of Chromosome Aberration.
3. true hermaphroditism, Pseudohermaphroditism, XX-male or XY-female syndrome.

polygenic inheritance and Multi-gene genetic diseases Period：2
-Describe
1. the concept of polygenic inheritance, minor gene, susceptibility, liability, threshold, heritability and etc.
2. the main points of multi-gene hypothesis.
3. The characteristics of Multi-gene genetic diseases.
-Explain
1. The characteristics of quantitative character and qualitative character.
2. the mechanism of polygenic inheritance.
3. the relation of liability and onset threshold.
-Understand
1. The heritability of multi-gene genetic diseases genetic and estimation method.
2. The estimate of recurrence ring of Multi-gene genetic diseases.

population genetics Period：2
-Describe
1. the concept of population, gene frequencies and genotype frequencies.
2. the content and application of genetic equilibrium law（Hardy-Weinberg equilibrium law）
3. the conversion of gene frequencies and genotype frequencies.
-Explain
1. the influence factors of the population gene frequencies and genetic equilibrium（consanguinous mating, selection, mutation, genetic shift and migration）
2. the relation of consanguinous mating and inbreeding coefficient.
3. the relation of selection coefficient and fitness.
-Understand
1. the concepts and classification of genetic load.
2. Genetic polymorphism in the population.

Single-gene Disorders（Monogenic Diseases） Period：2
Describe
1. Classification of Single-gene Disorders.
2. Structure and Expression of globin gene.
3. Genotypes, pathological mechanism, clinical manifestation and types of α-Thalassemia 4, Genotypes, pathological mechanism, clinical manifestation and types of β-Thalassemia.
Explain
1. Molecular Structure of Hemoglobin.
2. Types of mutations for Hemoglobin gene.
Understand
1. Clinical performance and typical cases of Molecular disease.
2. Common law, the pathogenesis, clinical manifestations and typical cases of inborn errors of metabolism.

Diagnosis, Therapy and Prevention of Genetic Disorders Period：2
Describe
1. Main Content of Diagnosis for Genetic Disorders.
2. The three measures to prevent genetic disease（Genetic Screening, Genetic counseling Prenatal Diagnosis）.
3. The main methods of genetic disease treatment（surgery treatment, Medical treatment, Dietary treatment and Gene treatment）.
Explain
1. Indications for Chromosome Analysis.
2. Principia of Medical and Dietary Treatment.
Understand
Strategy of Gene Therapy and Diagnosis for Genetic Disorders.

III. Experiment teaching content and basic request.

Experimental project Operation project Period
Exp.1 Observation of Human Chromosomes 1. using immersion objective.
2. To identify No.1, No.2 and G groups of chromosome.
3. To identify three types of the chromosome.
4. To Identify the gender of karyotype. 3
Exp.2 G-banding and karyotyping 1. To Identify the characteristics of G banding.
2. karyotype analysis：cut out each chromosome and arrange Homologous chromosomes according to their size, shape and bands, then glue to the paper. 3
Exp. 3 Micronucleus 1.The mouse was be Killed and dissected.
2.make the slide of marrow cell s smear.
3. To Identify the polychromatic erythrocytes（PCE）.
4. the observation of micronuclei and counting the number of micronucleus. 3
,rding to the arrangements of teaching Period, prepared the mastery, familiarity and understand etc. of three levels teaching requirements, aims to provide a main line of teaching and studying, another aims to help students effectively learning the essence of this course. and successfully pass the course examination. Not in the outline content is student study by themselves. the experiment course purpose is train the student to analyze question, judgment problem, solve problem ability.

II. theory course teaching content and the basic requirements
Introduction Period：0.5
-Describe
1. The definition of Medical Genetics.
2. The concept of genetic disease, characteristics and classification.
-Explain
1. The concept of a health and disease.
2. The occurrence of the disease On Relations between genetic factors and environmental factors.
- Understand
1. The major events of medical genetics in the development history（History of Genetics）
2. The brief introduction of epigenetics.

Human genes Period：1
-Describe
1. the chemical nature of the gene.
2. the structure and expression of split gene.
-Explain
1. the functional classification of genes（solitary gene, gene family, pseudogene, tandemly repeatd sequence）.
2. the composition of the genome（DNA sequence classification）
⑴ unique sequence
⑵ repetitive sequence
① highly repetitive sequence（satellite DNA, minisateliite DNA, microsatellite DNA）
② moderately repetitive sequences[Short interspersed nuclear elements（SINEs），long interspersed nuclear elements（LINEs）]
-Understand
1. the achievement of Human Genome Project have been achieved.
2. paternity test

Gene mutation Period：0.5
-Describe
1. Concepts and features of gene mutation.
2. the form of gene mutation.
-Explain
1. the inducement factor of gene mutation.
2. the molecular mechanism of gene mutation.
-Understand
1. Repair method of DNA damage.
2. Repair defects causes the diseases.

Inheritance of monogenic disorders Period：4
-Describe
1. drawing of pedigree
2. the characters of inheritance patterns of AD, AR, XD, XR and Y-lined and the application in inheritance pattern analysis and estimation of Risk in The Offspring of some given monogenic disorders
3. Definition of Coefficient of Relationship, application of Coefficient of Relationship in estimation of Risk in The Offspring of Consanguineous Marriage
-Explain
1. dominance, irregular dominance（Penetrance）, codominance, delayed dominance, and the applications with which some special inherited case be explained；
2. Explain some special inherited case with expressivity and genetic heterogeneity
3. The representative case of AD, AR, XD and XR.
-Understand
the other factors that affect the analysis of monogenic disorders （pleiotropy, anticipation, genetic imprinting, sex-influenced inheritance and sex-limited inheritance）

human chromosome, Chromosome Aberration and Chromosomal Disease Period：4
Describe：
1. X chromatin and the Points of Lyon hypothesis.
2. The number, structure, type and group of human chromosome.
3. The analysis and the description of karyotype of non-banding and banding.
4. An international system for human chromosome nomenclature.
5. The type and mechanism of euploid change and aneuploidy change.
6. The type of Chromosome structural Aberration, and the analysis and the description of Brief Karyotype and Detailed`Karyotype.
Explain：
1. The main distinction of Euchromatin and heterochromatin
2. The main distinction of Constitutive heterochromatin and Facultative Heterochromatin.
3. The common clinical characteristics of Chromosomal Disorder, and the Karyotype Indication of typical Autosomal Disease and Sex Chromosomal Disease.
Understand：
1. The concept of chromosomal polymorphism.
2. The causative factors of Chromosome Aberration.
3. true hermaphroditism, Pseudohermaphroditism, XX-male or XY-female syndrome.

polygenic inheritance and Multi-gene genetic diseases Period：2
-Describe
1. the concept of polygenic inheritance, minor gene, susceptibility, liability, threshold, heritability and etc.
2. the main points of multi-gene hypothesis.
3. The characteristics of Multi-gene genetic diseases.
-Explain
1. The characteristics of quantitative character and qualitative character.
2. the mechanism of polygenic inheritance.
3. the relation of liability and onset threshold.
-Understand
1. The heritability of multi-gene genetic diseases genetic and estimation method.
2. The estimate of recurrence ring of Multi-gene genetic diseases.

population genetics Period：2
-Describe
1. the concept of population, gene frequencies and genotype frequencies.
2. the content and application of genetic equilibrium law（Hardy-Weinberg equilibrium law）
3. the conversion of gene frequencies and genotype frequencies.
-Explain
1. the influence factors of the population gene frequencies and genetic equilibrium（consanguinous mating, selection, mutation, genetic shift and migration）
2. the relation of consanguinous mating and inbreeding coefficient.
3. the relation of selection coefficient and fitness.
-Understand
1. the concepts and classification of genetic load.
2. Genetic polymorphism in the population.

Single-gene Disorders（Monogenic Diseases） Period：2
Describe
1. Classification of Single-gene Disorders.
2. Structure and Expression of globin gene.
3. Genotypes, pathological mechanism, clinical manifestation and types of α-Thalassemia 4, Genotypes, pathological mechanism, clinical manifestation and types of β-Thalassemia.
Explain
1. Molecular Structure of Hemoglobin.
2. Types of mutations for Hemoglobin gene.
Understand
1. Clinical performance and typical cases of Molecular disease.
2. Common law, the pathogenesis, clinical manifestations and typical cases of inborn errors of metabolism.

Diagnosis, Therapy and Prevention of Genetic Disorders Period：2
Describe
1. Main Content of Diagnosis for Genetic Disorders.
2. The three measures to prevent genetic disease（Genetic Screening, Genetic counseling Prenatal Diagnosis）.
3. The main methods of genetic disease treatment（surgery treatment, Medical treatment, Dietary treatment and Gene treatment）.
Explain
1. Indications for Chromosome Analysis.
2. Principia of Medical and Dietary Treatment.
Understand
Strategy of Gene Therapy and Diagnosis for Genetic Disorders.

III. Experiment teaching content and basic request.

Experimental project Operation project Period
Exp.1 Observation of Human Chromosomes 1. using immersion objective.
2. To identify No.1, No.2 and G groups of chromosome.
3. To identify three types of the chromosome.
4. To Identify the gender of karyotype. 3
Exp.2 G-banding and karyotyping 1. To Identify the characteristics of G banding.
2. karyotype analysis：cut out each chromosome and arrange Homologous chromosomes according to their size, shape and bands, then glue to the paper. 3
Exp. 3 Micronucleus 1.The mouse was be Killed and dissected.
2.make the slide of marrow cell s smear.
3. To Identify the polychromatic erythrocytes（PCE）.
4. the observation of micronuclei and counting the number of micronucleus. 3
,ent is student study by themselves. the experiment course purpose is train the student to analyze question, judgment problem, solve problem ability.

II. theory course teaching content and the basic requirements
Introduction Period：0.5
-Describe
1. The definition of Medical Genetics.
2. The concept of genetic disease, characteristics and classification.
-Explain
1. The concept of a health and disease.
2. The occurrence of the disease On Relations between genetic factors and environmental factors.
- Understand
1. The major events of medical genetics in the development history（History of Genetics）
2. The brief introduction of epigenetics.

Human genes Period：1
-Describe
1. the chemical nature of the gene.
2. the structure and expression of split gene.
-Explain
1. the functional classification of genes（solitary gene, gene family, pseudogene, tandemly repeatd sequence）.
2. the composition of the genome（DNA sequence classification）
⑴ unique sequence
⑵ repetitive sequence
① highly repetitive sequence（satellite DNA, minisateliite DNA, microsatellite DNA）
② moderately repetitive sequences[Short interspersed nuclear elements（SINEs），long interspersed nuclear elements（LINEs）]
-Understand
1. the achievement of Human Genome Project have been achieved.
2. paternity test

Gene mutation Period：0.5
-Describe
1. Concepts and features of gene mutation.
2. the form of gene mutation.
-Explain
1. the inducement factor of gene mutation.
2. the molecular mechanism of gene mutation.
-Understand
1. Repair method of DNA damage.
2. Repair defects causes the diseases.

Inheritance of monogenic disorders Period：4
-Describe
1. drawing of pedigree
2. the characters of inheritance patterns of AD, AR, XD, XR and Y-lined and the application in inheritance pattern analysis and estimation of Risk in The Offspring of some given monogenic disorders
3. Definition of Coefficient of Relationship, application of Coefficient of Relationship in estimation of Risk in The Offspring of Consanguineous Marriage
-Explain
1. dominance, irregular dominance（Penetrance）, codominance, delayed dominance, and the applications with which some special inherited case be explained；
2. Explain some special inherited case with expressivity and genetic heterogeneity
3. The representative case of AD, AR, XD and XR.
-Understand
the other factors that affect the analysis of monogenic disorders （pleiotropy, anticipation, genetic imprinting, sex-influenced inheritance and sex-limited inheritance）

human chromosome, Chromosome Aberration and Chromosomal Disease Period：4
Describe：
1. X chromatin and the Points of Lyon hypothesis.
2. The number, structure, type and group of human chromosome.
3. The analysis and the description of karyotype of non-banding and banding.
4. An international system for human chromosome nomenclature.
5. The type and mechanism of euploid change and aneuploidy change.
6. The type of Chromosome structural Aberration, and the analysis and the description of Brief Karyotype and Detailed`Karyotype.
Explain：
1. The main distinction of Euchromatin and heterochromatin
2. The main distinction of Constitutive heterochromatin and Facultative Heterochromatin.
3. The common clinical characteristics of Chromosomal Disorder, and the Karyotype Indication of typical Autosomal Disease and Sex Chromosomal Disease.
Understand：
1. The concept of chromosomal polymorphism.
2. The causative factors of Chromosome Aberration.
3. true hermaphroditism, Pseudohermaphroditism, XX-male or XY-female syndrome.

polygenic inheritance and Multi-gene genetic diseases Period：2
-Describe
1. the concept of polygenic inheritance, minor gene, susceptibility, liability, threshold, heritability and etc.
2. the main points of multi-gene hypothesis.
3. The characteristics of Multi-gene genetic diseases.
-Explain
1. The characteristics of quantitative character and qualitative character.
2. the mechanism of polygenic inheritance.
3. the relation of liability and onset threshold.
-Understand
1. The heritability of multi-gene genetic diseases genetic and estimation method.
2. The estimate of recurrence ring of Multi-gene genetic diseases.

population genetics Period：2
-Describe
1. the concept of population, gene frequencies and genotype frequencies.
2. the content and application of genetic equilibrium law（Hardy-Weinberg equilibrium law）
3. the conversion of gene frequencies and genotype frequencies.
-Explain
1. the influence factors of the population gene frequencies and genetic equilibrium（consanguinous mating, selection, mutation, genetic shift and migration）
2. the relation of consanguinous mating and inbreeding coefficient.
3. the relation of selection coefficient and fitness.
-Understand
1. the concepts and classification of genetic load.
2. Genetic polymorphism in the population.

Single-gene Disorders（Monogenic Diseases） Period：2
Describe
1. Classification of Single-gene Disorders.
2. Structure and Expression of globin gene.
3. Genotypes, pathological mechanism, clinical manifestation and types of α-Thalassemia 4, Genotypes, pathological mechanism, clinical manifestation and types of β-Thalassemia.
Explain
1. Molecular Structure of Hemoglobin.
2. Types of mutations for Hemoglobin gene.
Understand
1. Clinical performance and typical cases of Molecular disease.
2. Common law, the pathogenesis, clinical manifestations and typical cases of inborn errors of metabolism.

Diagnosis, Therapy and Prevention of Genetic Disorders Period：2
Describe
1. Main Content of Diagnosis for Genetic Disorders.
2. The three measures to prevent genetic disease（Genetic Screening, Genetic counseling Prenatal Diagnosis）.
3. The main methods of genetic disease treatment（surgery treatment, Medical treatment, Dietary treatment and Gene treatment）.
Explain
1. Indications for Chromosome Analysis.
2. Principia of Medical and Dietary Treatment.
Understand
Strategy of Gene Therapy and Diagnosis for Genetic Disorders.

III. Experiment teaching content and basic request.

Experimental project Operation project Period
Exp.1 Observation of Human Chromosomes 1. using immersion objective.
2. To identify No.1, No.2 and G groups of chromosome.
3. To identify three types of the chromosome.
4. To Identify the gender of karyotype. 3
Exp.2 G-banding and karyotyping 1. To Identify the characteristics of G banding.
2. karyotype analysis：cut out each chromosome and arrange Homologous chromosomes according to their size, shape and bands, then glue to the paper. 3
Exp. 3 Micronucleus 1.The mouse was be Killed and dissected.
2.make the slide of marrow cell s smear.
3. To Identify the polychromatic erythrocytes（PCE）.
4. the observation of micronuclei and counting the number of micronucleus. 3