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1、01医学遗传学绪论introduction to medical Genetics,Arrangement IntroductionMedical GeneticsGenetic disease,Arrangement,Teacher:Liu Wen PhD associate prof()Liu Xiaoyu PhD assistant Prof()AlexanderEndler PhD,1.5 creditsLecture:2 classes/week(9 weeks)Lab:4 classes/week(4 weeks),Lectures,Lab training,Text bookRe
2、ference Thompson&Thompson Genetics in Medicine,7th Principles of Medical Genetics(Williams&Wikins),Exam:Exam 40%Presentation 30%Lab report 20%Homework 10,Introduction,46,XY karyotype,First Story,Androgen insensitivity syndrome,AIS,Mechanism Caused by mutations of the gene encoding the androgen recep
3、tor.symptoms A person with complete androgen insensitivity syndrome(CAIS)has a female external appearance,and suppressed menstruation.,androgen insensitivity syndrome，AIS（雄激素不敏感综合征）XR,46,XY karyotype,retained testis,Introduction,47,XXY(extra chromosome)Klinefelter sydrome,mania?,Mechanism,Second Sto
4、ry,Introduction-Disease and Genetics,A.Disease caused by(or related to)environmental stress.Bird Flu,SARS,H1N1 Flu,Introduction-Disease and Genetics,B.Disease caused by(or related to)genetic factors.,Many of the common physical featuresLow IQ,Down syndrome,Introduction-Disease and Genetics,Duchenne
5、muscular dystrophy caused by a gene mutation,Introduction-Disease and Genetics,C.diseases caused by the combined action of gene and environment.,Conjoined Twins,connate rachitis,Genetic Disorders:disorders caused wholly or partly by genetic factors.,What is Medical Genetics?,human genetics,What is M
6、edical Genetics?,human genetics:The science of variation and heredity in human beings.,Tongue rolling,Free/attached ear lobe,Hair line of the forehead,widow peak,Evaginable thumb,dominate,dominate,dominate,dominate,recessive,recessive,Homework Pedigree：,Nov 25th,Symbols,What is Medical Genetics?,Med
7、ical Genetics:Medical genetics deals with human genetic variation of medical significance.Major recognized areas of specialization are the study of chromosomes,and the structure and function of individual genes.,What is Medical Genetics?,Medical Genetics Wilsons disease,Mechanism of Genetic Disease,
8、What is Medical Genetics?,Clinical Genetics the application to diagnosis and patient care,What is Medical Genetics?,diagnosis,Sickle cell anemia,albinism,What is Medical Genetics?,Imagining Diagnosis,harelip,What is Medical Genetics?,MolecularDiagnosis,incision enzyme,Gel electrophoresis,What is Med
9、ical Genetics?,Prevention,PKU/PAH(Phenylalanine hydroxylase),phenylphruvic acid,prenatal diagnosis,What is Medical Genetics?,TherapyConsult,Genetic disease,A.What is genetic disorder?A genetic disorder is a disease that is caused by an abnormality in an individuals DNA.Abnormalities can range from a
10、 small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.,Genetic disease,B.Characteristics of genetic disorders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectious,Genetic disease,B.Characteristics of genetic diso
11、rders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectious,albinism,Down syndrome,Genetic disease,B.Characteristics of genetic disorders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectious,3 Pedigree of Genetic Disease,Genetic disease,
12、B.Characteristics of genetic disorders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectious,x,hemophilia,（Blood clotting，to bleed）,Genetic disease,B.Characteristics of genetic disorders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectio
13、us,Family number of DMD,Genetic disease,B.Characteristics of genetic disorders 1.congenital 2.mode of inheritance 3.population distribution 4.familial 5.infectious,Genetic disease,human prion diseases genetic and infectious,Neuron：Vacuolar degeneration,CreutzfeldtJakob disease,tribe,Genetic disease,
14、C.Classification of Genetic Disorders 1.single-gene disorders 2.chromosome disorders 3.multifactorial disorders 4.somatic cell genetic disorders 5.mitochondrial disorders,Genetic disease,C.Classification of Genetic Disorders 1.single-gene disorders 2.chromosome disorders 3.multifactorial disorders 4
15、.somatic cell genetic disorders 5.mitochondrial disorders,Genetic disease,Single-gene disorders result when a mutation causes the protein product of a single gene to be altered or missing.,表 一些常染色体显性遗传病举例,Genetic disease,C.Classification of Genetic Disorders 1.single-gene disorders 2.chromosome diso
16、rders 3.multifactorial disorders 4.somatic cell genetic disorders 5.mitochondrial disorders,In chromosome disorders,entire chromosomes,or large segments of them,are missing,duplicated,or otherwise altered.,Patau syndrome,Trisomy 13-the presence of an extra(third)chromosome 13 in all of the cells.,Sy
17、mptoms,Physical characteristicsOrgan defectsMental retardation,physical characteristics,cleft lip,cleft palate,small eyes,low-set ears,physical characteristics,rocker foot,heart defectsspinal defects,Organ defects,abnormal genitaliagastrointestinal herniaspolycystic kidney disease,mental retardation
18、,Incomplete brain developmentLow IQ,99do not survive gestation and are spontaneously aborted82-85%do not survive past 1 month of age,85%do not survive past 1 year of age,Diagnosis&Treatment,Diagnosis:chromosome analysisNO TREATMENT,Genetic disease,C.Classification of Genetic Disorders 1.single-gene
19、disorders 2.chromosome disorders 3.multifactorial disorders 4.somatic cell genetic disorders 5.mitochondrial disorders,Multiple genes are missing as a result of this deletion,and each may contribute to the symptoms of the disorder.One of the deleted genes known to be involved is TERT(telomerase reve
20、rse transcriptase).This gene is important during cell division because it helps to keep the tips of chromosomes(telomeres)in tact.,Genetic disease,Multifactorial disorders result from mutations in multiple genes,often coupled with environmental causes.,Genetic disease,C.Classification of Genetic Dis
21、orders 1.single-gene disorders 2.chromosome disorders 3.multifactorial disorders 4.somatic cell genetic disorders 5.mitochondrial disorders,Genetic disease,Somatic cell genetic diseases:result from the altered genetic materials in somatic cells.,Genetic disease,C.Classification of Genetic Disorders 1.single-gene disorders 2.chromosome disorders 3.multifactorial disorders 4.somatic cell genetic disorders 5.mitochondrial disorders,Genetic disease,Mitochondrial genetic diseases:Due to the mutation of mitochondrial DNA.,一些mtDNA突变相关的疾病,The End,
