医学遗传学绪论.ppt

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1、Medical Genetics Medical Genetics Arrangement Introduction Medical Genetics Genetic disease Medical GeneticsTeacher: Liu Wen PhD associate prof()Liu Xiaoyu PhD assistant Prof() Alexander Endler PhD Medical Genetics 1.5 credits Lecture:2 classes/week (9 weeks) Lab:4 classes/week (4 weeks) Medical Gen

2、eticsWeek Date Day Course Content Teacher10 11.11 Thu 3-4 Medical G enetics & G enetic disease Liu Wen 11 11.18 Thu 3-4 Single G ene Disorder Alexander Endler 12 11.25 Thu 3-4 Polygene Disorder Liu Wen 13 12.2 Thu 3-4 Chromosomal Disease Alexander Endler 14 12.9 Thu 3-4 Mitochondrial Disease Liu Wen

3、 15 12.16 Thu 3-4 G enetics and Cancer Liu Wen 16 12.23 Thu 3-4 Birth defect Liu Wen 17 12.30 Thu 3-4 Students presentation Liu Wen 18 1.7 Thu 3-4 Exam Liu Wen Classroom： 1402Lectures Medical GeneticsWeek Date Day Course Content Teacher11 11.19 Fri 5-8 Preparation of chromosome samples Liu Xiaoyu 12

4、 11.26 Fri 5-8 G banding & samples of chromosome diseases Liu Xiaoyu 14 12.10 Fri 5-8 Extraction of G enomic DNA Liu Xiaoyu 15 12.17 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu Lab： 13-214 Lab training Medical Genetics Text book Reference Thompson & Thompson Genetics in Medicine, 7th Princi

5、ples of Medical Genetics (Williams & Wikins) Medical GeneticsExam: Exam 40% Presentation 30% Lab report 20% Homework 10 Medical Genetics 46,XY karyotype Medical Genetics Mechanism Caused by mutations of the gene encoding the androgen receptor. symptoms A person with complete androgen insensitivity s

6、yndrome (CAIS) has a female external appearance, and suppressed menstruation. Medical Geneticsandrogen insensitivity syndrome， AIS（ 雄 激 素 不 敏 感 综 合 征 ） XR 46,XY karyotyperetained testis Medical Genetics 47,XXY (extra chromosome )Klinefelter sydrome mania ?Mechanism Medical GeneticsA. Disease caused

7、by (or related to) environmental stress. Bird Flu SARS H1N1 Flu Medical Genetics B. Disease caused by (or related to) genetic factors.Many of the common physical featuresLow IQDown syndrome Medical Genetics Medical GeneticsDuchenne muscular dystrophy caused by a gene mutation Medical Genetics Medica

8、l GeneticsC. diseases caused by the combined action of gene and environment. Conjoined Twins connate rachitis Medical GeneticsGenetic Disorders : disorders caused wholly or partly by genetic factors. Medical Geneticshuman genetics Medical Geneticshuman genetics: The science of variation and heredity

9、 in human beings. Medical GeneticsEvaginable thumbdominate dominatedominate dominaterecessive recessive Medical GeneticsNov 25th Medical GeneticsSymbols Medical GeneticsMedical Genetics : Medical genetics deals with human genetic variation of medical significance. Major recognized areas of specializ

10、ation are the study of chromosomes, and the structure and function of individual genes. Medical GeneticsMedical Genetics Wilsons disease Mechanism of Genetic Disease Medical GeneticsClinical Genetics the application to diagnosis and patient care Medical GeneticsWhat is Medical Genetics?diagnosis Sic

11、kle cell anemia albinism Medical GeneticsImagining Diagnosis Medical Genetics harelip Medical Genetics MolecularDiagnosis incision enzyme Gel electrophoresis Medical GeneticsPrevention PKU/PAH (Phenylalanine hydroxylase)phenylphruvic acidprenatal diagnosis Medical GeneticsTherapyConsult Medical Gene

12、tics 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 small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Medical GeneticsB. Characteristics of

13、 genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious Medical GeneticsB. Characteristics of genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious Medical Genetics albinism Down syndrome Medic

14、al GeneticsB. Characteristics of genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious Medical Genetics 3 Pedigree of Genetic Disease Medical GeneticsB. Characteristics of genetic disorders 1. congenital 2. mode of inheritance 3. population distr

15、ibution 4. familial 5. infectious Medical Genetics （ Blood clotting， to bleed） Medical GeneticsB. Characteristics of genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious Medical Genetics Family number of DMD Medical GeneticsB. Characteristics of

16、 genetic disorders 1. congenital 2. mode of inheritance 3. population distribution 4. familial 5. infectious Medical Geneticshuman prion diseases genetic and infectious Neuron ： Vacuolar degeneration Medical Genetics Creutzfeldt Jakob disease tribe Medical GeneticsC. Classification of Genetic Disord

17、ers 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders Medical GeneticsC. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic di

18、sorders 5. mitochondrial disorders Medical Genetics Single-gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Medical Genetics表 一 些 常 染 色 体 显 性 遗 传 病 举 例疾 病 中 文 名 称 疾 病 英 文 名 称 OMIM 染 色 体 定 位家 族 性 高 胆 固 醇 血 症 familial hypercholesterolemia 1438

19、90 19p13.2遗 传 性 出 血 性 毛 细 血 管 扩 张 hemorrhagic telangiectasia 187300 9q34.1遗 传 性 球 形 红 细 胞 症 elliptocytosis 130500 1p36.2-p34急 性 间 歇 性 卟 淋 症 porphyria, acute intermittent 176000 11q23.3迟 发 性 成 骨 发 育 不 全 症 osteogenesis imperfecta, type I 166200 17q21.31-q22成 年 多 囊 肾 病 polycystic kidney disease, adult

20、173900 16p13.3-p13.12-珠 蛋 白 生 成 障 碍 性 贫 血 alpha-thalassemias 141800 16pter-p13.3短 指 （ 趾 ） 症 A1型 brachydactyly, type A1 112500 2q35-q36特 发 性 肥 大 性 主 动 脉 瓣 下 狭 窄 supravalvular aortic stenosis 185500 7q11.2 遗 传 性 巨 血 小 板 病 ， 肾 炎 和 耳 聋 Fechtner syndrome 153640 22q11.2Noonan综 合 征 Noonan syndrome 1 163950

21、 12q24.1神 经 纤 维 瘤 neurofibromatosis, type I 162200 17q11.2结 节 性 脑 硬 化 tuberous sclerosis 191100 16p13.3， 9q34多 发 性 家 族 性 结 肠 息 肉 症 adenomatous polyposis of the colon 175100 5q21-q22Peutz-Jeghers综 合 征 Peutz-Jeghers syndrome 175200 19p13.3Von Willebrand病 Von Willebrand disease 193400 12p13.3肌 强 直 性 营

22、养 不 良 dystrophia myotonica 1 160900 19q13.2-q13.3 Medical GeneticsC. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders Medical Genetics In chromosome disorders, entire chromoso

23、mes, or large segments of them, are missing, duplicated, or otherwise altered. Medical Genetics Medical Genetics Trisomy 13 - the presence of an extra (third) chromosome 13 in all of the cells. Medical Genetics Physical characteristics Organ defects Mental retardation Medical Geneticscleft lip,cleft

24、 palate small eyes low-set ears Medical Genetics rocker foot Medical Genetics heart defects spinal defects Medical Genetics abnormal genitalia gastrointestinal hernias polycystic kidney disease Medical Genetics Incomplete brain development Low IQ Medical Genetics99 do not survive gestation and are s

25、pontaneously aborted82-85% do not survive past 1 month of age, 85% do not survive past 1 year of age Medical Genetics Diagnosis: chromosome analysis NO TREATMENT Medical GeneticsC. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. som

26、atic cell genetic disorders 5. mitochondrial disorders Medical Genetics 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 reverse transcriptase). This gene is important d

27、uring cell division because it helps to keep the tips of chromosomes (telomeres) in tact. Medical Genetics Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes. Medical GeneticsC. Classification of Genetic Disorders 1. single-gene disorders 2. chr

28、omosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders Medical Genetics Somatic cell genetic diseases: result from the altered genetic materials in somatic cells. Medical Genetics Medical GeneticsC. Classification of Genetic Disorders 1. single-gen

29、e disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders Medical Genetics Mitochondrial genetic diseases: Due to the mutation of mitochondrial DNA. Medical Genetics 一 些 mtDNA突 变 相 关 的 疾 病突 变 相 关 基 因 表 型mt-3243 tRNALeu(UUR) MELAS、 PE

30、O、 NIDDM/耳 聋mt-3256 tRNALeu(UUR) PEOmt-3271 tRNALeu(UUR) MELASmt-3303 tRNALeu(UUR) 心 肌 病mt-3260 tRNALeu(UUR) 心 肌 病 /肌 病mt-4269 tRNA Ile 心 肌 病mt-5730 tRNAAsn 肌 病 (PEO)mt-8344 tRNALys MERRFmt-8356 tRNALys MERRF/MELASmt-15990 tRNAPro 肌 病mt-8993 A6 NARP/LEIGHmt-11778 ND4 LHONmt-4160 ND1 LHONmt-3460 ND1 LHONmt-7444 COX1 LHONmt-14484 ND6 LHON mt-15257 Cyt6 LHON Medical GeneticsThe End