Medical Genetics 01 医学遗传学绪论 introduction to medical Genetics

Medical Genetics Arrangement Introduction What is Medical Genetics? Genetic disease

Medical Genetics Arrangement Teacher: 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 Genetics Week Date Day CourseContent Teacher Thu 3-4 Introduction / Medical Genetics Liu Wen Thu 3-4 Single Gene DisorderAlexander Endler Fri 5-8 Preparation of chromosome samplesLiu Xiaoyu Thu 3-4 Polygene Disorder / Mitochondrial Disease Liu Wen Fri 5-8 G banding Liu Xiaoyu Thu 3-4 Chromosomal DiseaseAlexander Endler Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu Thu 3-4 Genetics and Cancer/ Birth defect Liu Wen Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu Thu 3-4 Students Presentation Liu Wen Thu 3-4 Students presentation Liu Wen Thu 3-4 Students presentation Liu Wen Thu 3-4 Exam Liu Wen Classroom ： 2608 Lab ：

Medical Genetics Text book Reference

Medical Genetics Exam: Presentation 50% Review OR Exam 30% Lab report 20%

Medical Genetics Introduction 46,XY karyotype

Medical Genetics Androgen insensitivity syndrome, AIS Mechanism Caused by mutations of the gene encoding the androgen receptor. symptoms A person with complete androgen insensitivity syndrome (CAIS) has a female external appearance, and suppressed menstruation.

Medical Genetics Introduction 47,XXY (extra chromosome ) Klinefelter sydrome mania ?? Mechanism

Medical Genetics Introduction Disease caused by (or related to) environmental stress. Bird Flu (upper) SARS (right)

Medical Genetics Introduction Disease caused by (or related to) genetic factors. Many of the common physical features Low IQ Down syndrome

Medical Genetics

Introduction Duchenne muscular dystrophy caused by a gene mutation

Medical Genetics

Introduction diseases caused by the combined action of gene and environment. Conjoined Twins connate rachitis

Medical Genetics Introduction Genetic Disorders : disorders caused wholly or partly by genetic factors.

Medical Genetics What is Medical Genetics? human genetics

Medical Genetics What is Medical Genetics? human genetics: The science of variation and heredity in human beings.

Medical Genetics Tongue rolling Free/attached ear lobe Hair line of the forehead widow peak Evaginable thumb

Medical Genetics 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.

Medical Genetics What is Medical Genetics? Medical Genetics Wilson’s disease Mechanism of Genetic Disease

Medical Genetics What is Medical Genetics? Clinical Genetics the application to diagnosis and patient care

Medical Genetics What is Medical Genetics? diagnosis Sickle cell anemia albinism

Medical Genetics What is Medical Genetics? Imagining Diagnosis

Medical Genetics harelip

Medical Genetics What is Medical Genetics? Molecular Diagnosis incision enzyme Gel electrophoresis

Medical Genetics What is Medical Genetics? Prevention PKU/PAH (Phenylalanine hydroxylase) phenylphruvic acid

Medical Genetics What is Medical Genetics? Therapy Consult

Medical Genetics Genetic disease A. What is genetic disorder? A genetic disorder is a disease that is caused by an abnormality in an individual ’ s 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 Genetics Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics Genetic disease B. Characteristics of genetic disorders 1.population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics x hemophilia

Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics 3 Pedigree of Genetic Disease

Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics albinism Down syndrome

Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics

Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics Genetic disease human prion diseases genetic and infectious Neuron ： Vacuolar degeneration

Medical Genetics Creutzfeldt － Jakob disease tribe

Medical Genetics 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

Medical Genetics 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

Medical Genetics Genetic disease 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 p13.2 遗传性出血性毛细血管扩张 hemorrhagic telangiectasia q34.1 遗传性球形红细胞症 elliptocytosis p36.2-p34 急性间歇性卟淋症 porphyria, acute intermittent q23.3 迟发性成骨发育不全症 osteogenesis imperfecta, type I q21.31-q22 成年多囊肾病 polycystic kidney disease, adult p13.3- p13.12  - 珠蛋白生成障碍性贫血 alpha-thalassemias pter-p13.3 短指（趾）症 A1 型 brachydactyly, type A q35-q36 特发性肥大性主动脉瓣下狭窄 supravalvular aortic stenosis q11.2 遗传性巨血小板病，肾炎和耳聋 Fechtner syndrome q11.2 Noonan 综合征 Noonan syndrome q24.1 神经纤维瘤 neurofibromatosis, type I q11.2 结节性脑硬化 tuberous sclerosis p13.3 ， 9q34 多发性家族性结肠息肉症 adenomatous polyposis of the colon q21-q22 Peutz-Jeghers 综合征 Peutz-Jeghers syndrome p13.3 Von Willebrand 病 Von Willebrand disease p13.3 肌强直性营养不良 dystrophia myotonica q13.2-q13.3

Medical Genetics 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

Medical Genetics In chromosome disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered.

Medical Genetics

Patau syndrome Patau syndrome Trisomy the presence of an extra (third) chromosome 13 in all of the cells.

Medical Genetics Symptoms Physical characteristics Organ defects Mental retardation

Medical Genetics physical characteristics cleft lip,cleft palate small eyes low-set ears

Medical Genetics physical characteristics rocker foot

Medical Genetics Organ defects heart defects spinal defects

Medical Genetics abnormal genitalia gastrointestinal hernias polycystic kidney disease

Medical Genetics mental retardation Incomplete brain development Low IQ

Medical Genetics  99 ％ do 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 age

Medical Genetics Diagnosis &Treatment Diagnosis: chromosome analysis NO TREATMENT

Medical Genetics 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

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 during cell division because it helps to keep the tips of chromosomes (telomeres) in tact.

Medical Genetics Genetic disease Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.

Medical Genetics 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

Medical Genetics Genetic disease Somatic cell genetic diseases: result from the altered genetic materials in somatic cells.

Medical Genetics

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

Medical Genetics Genetic disease 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-3243tRNA Leu(UUR) MELAS 、 PEO 、 NIDDM/ 耳聋 mt-3256tRNA Leu(UUR) PEO mt-3271tRNA Leu(UUR) MELAS mt-3303tRNA Leu(UUR) 心肌病 mt-3260tRNA Leu(UUR) 心肌病 / 肌病 mt-4269tRNA Ile 心肌病 mt-5730tRNA Asn 肌病 (PEO) mt-8344tRNA Lys MERRF mt-8356tRNA Lys MERRF/MELAS mt-15990tRNA Pro 肌病 mt-8993A6NARP/LEIGH mt-11778ND4LHON mt-4160ND1LHON mt-3460ND1LHON mt-7444COX1LHON mt-14484ND6LHON mt-15257Cyt6LHON

Medical Genetics The End