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1、01 医学遗传学绪论 introduction to medical Genetics,Arrangement Introduction Medical Genetics Genetic disease,Arrangement,Teacher: Liu Wen PhD associate prof () Liu Xiaoyu PhD assistant Prof () Alexander Endler PhD,1.5 credits Lecture:2 classes/week (9 weeks) Lab:4 classes/week (4 weeks),Lectures,Lab traini
2、ng,Text book Reference 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 e
3、ncoding the androgen receptor. 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
4、sydrome,mania ?,Mechanism,Second Story,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 features Low IQ,Down syndrome
5、,Introduction-Disease and Genetics,Duchenne 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.,Wha
6、t is Medical Genetics?,human genetics,What is Medical 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
7、：,Nov 25th,Symbols,What is Medical Genetics?,Medical 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 Ge
8、netics Wilsons disease,Mechanism of Genetic Disease,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?,Molecular Diag
9、nosis,incision enzyme,Gel electrophoresis,What is Medical Genetics?,Prevention,PKU/PAH (Phenylalanine hydroxylase),phenylphruvic acid,prenatal diagnosis,What is Medical Genetics?,Therapy Consult,Genetic disease,A. What is genetic disorder? A genetic disorder is a disease that is caused by an abnorma
10、lity in an individuals DNA. Abnormalities can range from a 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
11、 5. infectious,Genetic disease,B. Characteristics of genetic disorders 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 distribut
12、ion 4. familial 5. infectious,3 Pedigree of Genetic Disease,Genetic disease,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
13、 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious,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 genet
14、ic and infectious,Neuron ： Vacuolar degeneration,CreutzfeldtJakob disease,tribe,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,C. Classifi
15、cation of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. 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
16、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 disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders,In chromosome disorders, entire chromosomes, or large segments of them, are missing, duplicate
17、d, or otherwise altered.,Patau syndrome,Trisomy 13 - the presence of an extra (third) chromosome 13 in all of the cells.,Symptoms,Physical characteristics Organ defects Mental retardation,physical characteristics,cleft lip,cleft palate,small eyes,low-set ears,physical characteristics,rocker foot,hea
18、rt defects spinal defects,Organ defects,abnormal genitalia gastrointestinal hernias polycystic kidney disease,mental retardation,Incomplete brain development Low IQ,99do not survive gestation and are spontaneously aborted 82-85% do not survive past 1 month of age, 85% do not survive past 1 year of a
19、ge,Diagnosis &Treatment,Diagnosis: chromosome analysis NO TREATMENT,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,Multiple genes are missing as a result
20、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 reverse transcriptase). This gene is important during cell division because it helps to keep the tips of chromosomes (telomeres) in tact.,Genetic disease,Multi
21、factorial disorders result from mutations in multiple genes, often coupled with environmental causes.,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,Genet
22、ic 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,