《医学遗传学》课程教学大纲 medical genetics（理论课，英文）

西北联合大学Medical Genetics teaching programCourse NO.: y700064Coursename:Medical GeneticsCourse attribute: requiredCredit hours:24credit:2.0Applicable subject::biochemistry、Medical Cell BiologyIntroduction of subjectsA gene, the basic unit of heredity, is a segment of DNA containing all the informationnecessaryto synthesizea polypeptide (protein).Protein synthesis,folding,and tertiaryand quaternary structure ultimately determine much of the body's structure and function.Humanshaveabout 20,000 to23,000genes.Genesare contained in chromosomes in thecell nucleus and mitochondria.In humans,somatic (nongerm) cell nuclei normallyhave 46chromosomesin23pairs.Eachpair consistsof one chromosomefrom themotherand onefromthe father. Twenty-two of the pairs, the autosomes, are normally homologous (identical insize, shape, and position and number of genes). The 23rd pair, the sex chromosomes (X andY), determines a person's sex as well as containing other functional genes. Women have 2X chromosomes (which are homologous) in somatic cell nuclei; men have one X and one Ychromosome (which areheterologous).The Xchromosomecarriesgenes responsibleformanyhereditary traits; the smaller Y chromosome carries genes that initiate male sexdifferentiation,as well as a few other genes.Because the Xchromosome has many more genesthan theY chromosome, many X chromosomegenes in males are not paired; in order to maintaina balance of genetic material between men and women, one of the X chromosomes in women israndomly inactivated.A karyotype is the full set of chromosomes in a person's cells.Genes consist of DNA. The length of the gene determines the length of the protein thegene codes for. DNA is a double helix in which nucleotides (bases) are paired; adenine (A)is pairedwiththymine (T) and guanine (G) is paired with cytosine (C).DNA is transcribedduringprotein synthesis, in which one strand of DNA is used asa template against whichmessenger RNA (mRNA) is made. RNA has the same base pairs as DNA, except that uracil (u)replaces thymine (T).Parts of mRNA travel from the nucleus to the cytoplasm and then tothe ribosome, where protein synthesis occurs.Transfer RNA (tRNA)brings each amino acidback to the ribosome where it is added to the growing polypeptide chain in a sequencedetermined by the mRNA. As a chain of amino acids is assembled, it folds upon itself tocreate a complex 3-dimensional structure under the influence of nearby chaperone molecules.Genes consist of exons and introns. Exons code for amino acid components of the finalprotein. Introns contain other information that affects control and speed of proteinproduction. Exons and introns together are transcribed onto mRNA, but the segmentstranscribed from introns are later spliced out.Many factors regulatetranscription,including antisense RNA, which is synthesized from the DNA strand that is not transcribed

Medical Genetics teaching program Course name：Medical Genetics Course NO.：y700064 Course attribute：required Credit hours： 24 credit：2.0 Applicable subject：：biochemistry、Medical Cell Biology Introduction of subjects A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein). Protein synthesis, folding, and tertiary and quaternary structure ultimately determine much of the body's structure and function. Humans have about 20,000 to 23,000 genes. Genes are contained in chromosomes in the cell nucleus and mitochondria. In humans, somatic (nongerm) cell nuclei normally have 46 chromosomes in 23 pairs. Each pair consists of one chromosome from the mother and one from the father. Twenty-two of the pairs, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). The 23rd pair, the sex chromosomes (X and Y), determines a person's sex as well as containing other functional genes. Women have 2 X chromosomes (which are homologous) in somatic cell nuclei; men have one X and one Y chromosome (which are heterologous). The X chromosome carries genes responsible for many hereditary traits; the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. Because the X chromosome has many more genes than the Y chromosome, many X chromosome genes in males are not paired; in order to maintain a balance of genetic material between men and women, one of the X chromosomes in women is randomly inactivated.A karyotype is the full set of chromosomes in a person's cells. Genes consist of DNA. The length of the gene determines the length of the protein the gene codes for. DNA is a double helix in which nucleotides (bases) are paired; adenine (A) is paired with thymine (T) and guanine (G) is paired with cytosine (C). DNA is transcribed during protein synthesis, in which one strand of DNA is used as a template against which messenger RNA (mRNA) is made. RNA has the same base pairs as DNA, except that uracil (U) replaces thymine (T). Parts of mRNA travel from the nucleus to the cytoplasm and then to the ribosome, where protein synthesis occurs. Transfer RNA (tRNA) brings each amino acid back to the ribosome where it is added to the growing polypeptide chain in a sequence determined by the mRNA. As a chain of amino acids is assembled, it folds upon itself to create a complex 3-dimensional structure under the influence of nearby chaperone molecules. Genes consist of exons and introns. Exons code for amino acid components of the final protein. Introns contain other information that affects control and speed of protein production. Exons and introns together are transcribed onto mRNA, but the segments transcribed from introns are later spliced out. Many factors regulate transcription, including antisense RNA, which is synthesized from the DNA strand that is not transcribed

杨北联后大学into mRNA. In addition to DNA, chromosomes contain histones and other proteins that affectgeneexpression (whichproteinsandhowmanyproteinsaresynthesizedfromagivengene).A trait maybe as simpleasthecolor of the eyes or as complexas susceptibilitytodiabetes.Expression of atraitmayinvolveonegeneormanygenes.Some single-gene defectscause abnormalities in multiple tissues, an effect called pleiotropy. For example,osteogenesis imperfecta (a connective tissue disorder that oftenresultsfromabnormalitiesin a single collagen gene) may cause fragile bones, deafness, blue-colored sclerae,dysplastic teeth, hypermobile joints, and heart valve abnormalitiesThe family pedigree (family tree) can be used to diagram inheritance patterns.It isalso commonly used in genetic counseling. The pedigree uses conventional symbols torepresent family members and pertinent health information about them.Some familialdisorders withidenticalphenotypes have multiplepatternsof inheritance.Itemsandarrangementofcoursearrangementlecturesexercisessiminarexperimentcomputerotherstotal24credit24hoursChapter 1:Introduction (Suggestedhours:2)【objectives and requirements】1.masterMedical Genetics; Genetic disease;Singlegene disorder; Allele;Multifactoriadisease; Familial disease; Congenital disease。[key point】Characteristics ofgeneticdiseaseMajor Types of Genetic DiseasesSeveral misunderstanding。Chapter 2:Hereditary basis (Suggested hours:2)【objectives and requirements】masterEuchromatin;Heterochromatin;Chromatid; Centromere;Denver system;Autosome;Sexchromosome;eanalysis;Lyonhypothesis;DosageKaryotypecompensation,Multigene family;pseudogene; Genetic Imprinting;mRNA editing;Gene

into mRNA. In addition to DNA, chromosomes contain histones and other proteins that affect gene expression (which proteins and how many proteins are synthesized from a given gene). A trait may be as simple as the color of the eyes or as complex as susceptibility to diabetes. Expression of a trait may involve one gene or many genes. Some single-gene defects cause abnormalities in multiple tissues, an effect called pleiotropy. For example, osteogenesis imperfecta (a connective tissue disorder that often results from abnormalities in a single collagen gene) may cause fragile bones, deafness, blue-colored sclerae, dysplastic teeth, hypermobile joints, and heart valve abnormalities The family pedigree (family tree) can be used to diagram inheritance patterns. It is also commonly used in genetic counseling. The pedigree uses conventional symbols to represent family members and pertinent health information about them. Some familial disorders with identical phenotypes have multiple patterns of inheritance. Items and arrangement of course arrangement lectures exercises siminar experiment computer others total 24 credit hours 24 Chapter 1：Introduction（Suggested hours：2） 【objectives and requirements】 1.master Medical Genetics; Genetic disease; Single gene disorder; Allele; Multifactoria disease; Familial disease; Congenital disease。 【key point】 Characteristics of genetic disease Major Types of Genetic Diseases Several misunderstanding。 Chapter 2：Hereditary basis（Suggested hours：2） 【objectives and requirements】 master Euchromatin; Heterochromatin; Chromatid; Centromere; Denver system; Autosome; Sex chromosome; Karyotype analysis; Lyon hypothesis; Dosage compensation; Multigene family; pseudogene; Genetic Imprinting; mRNA editing; Gene

杨北联后大学mutation; Dynamic mutation。[key point]Lyon hypothesis; Genetic imprinting; Dynamic mutationChapter 3: Monogenic Disease (Suggested hours: 4)【objectives and requirements】masterMonogeneticDisease;Autosomal Dominant;Homozygote &Heterozygote;Genotype &Phenotype;Pedigree&pedigree analysis;Prohand (Index case);IrregularDominance;Penetrance;Delayed Dominance;Autosomal Recessive;Carrier;CloseRelatives;Coefficient ofRelationship;Hemizygote;Criss-crossinheritance; Expressivity;Pleiotropy; Geneticheterogeneity;Allelic heterogeneity;Locus heterogeneity; Anticipation【keypoint】Concept of Monogenic DiseasePedigreeSymbol&PedigreeAnalysisPedigree Characteristics of AD, ARIrregulardominancePedigree Characteristics of XD,XR,Y-linkedTheEstimateofAR inConsanguineous MarriageChapter 4:Chromosomal disorders (Suggestedhours:4)【objectives and requirements】masterBanding Pattern; Landmark; Chromosome aberration;Haploid & DiploidNumericalAbnormality; Polyploid; Diplochromosome; Hypodiploid & Hyperdiploid;MonosomyTrisomy&Polysomy;Non-disjunction;Mosaic;Chromosomeloss

mutation; Dynamic mutation。 【key point】 Lyon hypothesis; Genetic imprinting; Dynamic mutation Chapter 3：Monogenic Disease（Suggested hours：4） 【objectives and requirements】 master Monogenetic Disease; Autosomal Dominant; Homozygote & Heterozygote; Genotype & Phenotype; Pedigree & pedigree analysis; Prohand (Index case); Irregular Dominance; Penetrance; Delayed Dominance; Autosomal Recessive; Carrier; Close Relatives; Coefficient of Relationship；Hemizygote; Criss-cross inheritance; Expressivity; Pleiotropy; Genetic heterogeneity; Allelic heterogeneity; Locus heterogeneity; Anticipation 【key point】 Concept of Monogenic Disease Pedigree Symbol & Pedigree Analysis Pedigree Characteristics of AD, AR Irregular dominance Pedigree Characteristics of XD, XR, Y-linked The Estimate of AR in Consanguineous Marriage Chapter 4：Chromosomal disorders（Suggested hours：4） 【objectives and requirements】 master Banding Pattern; Landmark; Chromosome aberration; Haploid & Diploid; Numerical Abnormality; Polyploid; Diplochromosome; Hypodiploid & Hyperdiploid; Monosomy, Trisomy & Polysomy; Non-disjunction; Mosaic; Chromosome loss

杨北联后大学StructuralAberration,DerivativeDeletion;Inversion;chromosome;Translocation;Inversion loop; Fragile Site【key point】DenverSystem;Numericalabnormality&Mechanism。StructuralAberration&MechanismDisjunctionofbalancing chromosomeChapter 5:MultifactorialDisease(Suggestedhours:2)【objectives and requirements]】1.masterAdditive effect; Qualitative trait & Quantitative trait; Susceptibility; Liability;Threshold; Heritability[【key point】Characteristics ofPolygenicInheritanceThreshold TheoryHeritability&Estimate of HeritabilityInheritance Characteristics of Polygenic DiseaseChapter 6:CancerGenetics(Suggested hours:2)【objectives and requirements]1.masterGermline mutation; Two mutation theory; Chromosome theory; Cloneevolution;Stem line &Side line; Modal number; Ph chromosomeTumor suppressorgene;Anti-oncogene;Clonal selection;Two mutationtheory。【key point]Twomutationtheory:Cloneorigintheory;Clone evolution

Structural Aberration; Derivative chromosome; Deletion; Inversion; Translocation；Inversion loop; Fragile Site 【key point】 Denver System; Numerical abnormality & Mechanism。 Structural Aberration & Mechanism Disjunction of balancing chromosome Chapter 5：Multifactorial Disease（Suggested hours：2） 【objectives and requirements】 1.master Additive effect; Qualitative trait & Quantitative trait; Susceptibility; Liability; Threshold; Heritability 【key point】 Characteristics of Polygenic Inheritance Threshold Theory Heritability & Estimate of Heritability Inheritance Characteristics of Polygenic Disease Chapter 6：Cancer Genetics（Suggested hours：2） 【objectives and requirements】 1.master Germline mutation; Two mutation theory; Chromosome theory; Clone evolution; Stem line & Side line; Modal number; Ph chromosome Tumor suppressor gene; Anti-oncogene; Clonal selection; Two mutation theory。 【key point】 Two mutation theory; Clone origin theory; Clone evolution

杨北联后大学Mechanisms of oncogene activation; Multistep oncogenesis theoryChapter 7:PopulationGenetics (Suggestedhours:2)【objectives and requirements】1.masterGene pool; Gene frequency & Genotypic frequency; Genetic equilibrium;Mutation rate; Fitness;Selection coefficientRandom genetic drift; Isolation; Founder effect; Migration; Gene flow,Inbreeding coefficient; Genetic load【keypoint】GeneFrequency&GenotypicFrequencyLaw of Genetic EquilibriumFactors that Alter Genetic EquilibriumMutation,SelectionConsanguineous MarriageGeneticLoadChapter 8:Molecular Disease (Suggested hours:2)[objectives and requirements】masterMolecular disease; Hemoglobinopathy;Abnormal hemoglobin;Thalassemia;Sicklecell disease; Fusion gene[【key point】MolecularDiseasePathogenesisofAbnormal HemoglobinPathogenesis ofThalassemia

Mechanisms of oncogene activation; Multistep oncogenesis theory Chapter 7：Population Genetics（Suggested hours：2） 【objectives and requirements】 1.master Gene pool; Gene frequency & Genotypic frequency; Genetic equilibrium; Mutation rate; Fitness; Selection coefficient Random genetic drift; Isolation; Founder effect; Migration; Gene flow; Inbreeding coefficient; Genetic load 【key point】 Gene Frequency & Genotypic Frequency Law of Genetic Equilibrium Factors that Alter Genetic Equilibrium —— Mutation, Selection Consanguineous Marriage Genetic Load Chapter 8：Molecular Disease（Suggested hours：2） 【objectives and requirements】 master Molecular disease; Hemoglobinopathy; Abnormal hemoglobin; Thalassemia; Sickle cell disease; Fusion gene 【key point】 Molecular Disease Pathogenesis of Abnormal Hemoglobin Pathogenesis of Thalassemia

西北联合大学Chapter 9:Diagnosis of the Hereditary Disease (Suggested hours:2)【objectivesandrequirements]1.masterPrenatal diagnosis; Newborn screening; Carrier screening; Genetic registerGene diagnosis; Haplotype analysis; Molecular hybridization; Polyperase chainreaction (PCR)。[key point]Pedigree AnalysisIndication of CytogeneticsHaplotype analysis。Chapter 10:Therapy of the Hereditary Disease (Suggested hours:2)【objectivesandrequirements]1.masterPharmacotherapy;Dietetic treatment;Gene therapy;Gene correction; Geneaugmentation; Homologous recombination; Retrovirus; Adenovirus; Suicidegene;[key point]Concept of gene therapyGene delivery method

Chapter 9：Diagnosis of the Hereditary Disease（Suggested hours：2） 【objectives and requirements】 1.master Prenatal diagnosis; Newborn screening; Carrier screening; Genetic register Gene diagnosis; Haplotype analysis; Molecular hybridization; Polyperase chain reaction (PCR)。 【key point】 Pedigree Analysis Indication of Cytogenetics Haplotype analysis。 Chapter 10：Therapy of the Hereditary Disease（Suggested hours：2） 【objectives and requirements】 1.master Pharmacotherapy; Dietetic treatment; Gene therapy; Gene correction; Gene augmentation; Homologous recombination; Retrovirus; Adenovirus; Suicide gene; 【key point】 Concept of gene therapy Gene delivery method

西北联后大学examination mode:closed-book examTeaching materials and reference books:Teaching materials:1.《Genetics inMedicine》,RoberL.Nussbaum,PekingUniversityMedicalPress,2007.1reference books:1.Principles of Medical Genetics(2nd):TD Gelehrter,FSC Collins,DGinsburg.Williams&Wilkins,19982. Principles of medical genetics.TD Gelehrter,FSC Collins,DGinsburg.SciencePress

examination mode： closed-book exam Teaching materials and reference books： Teaching materials： 1.《Genetics in Medicine》，Rober L. Nussbaum，Peking University Medical Press，2007.1 reference books： 1.Principles of Medical Genetics (2nd)．TD Gelehrter，FSC Collins，D Ginsburg．Williams & Wilkins，1998 2. Principles of medical genetics ． TD Gelehrter ， FSC Collins ， D Ginsburg．Science Press