Medical Genetics 01 01 医医医 医医医 传 医医医 医医医 传 introduction to introduction to medical Genetics medical Genetics
Jan 19, 2016
Medical Genetics
0101 医学遗传学绪论 医学遗传学绪论
introduction to medical introduction to medical GeneticsGenetics
Medical Genetics
• Arrangement• Introduction• What is Medical Genetics?• Genetic disease
Medical Genetics
ArrangementArrangementTeacher: Liu Wen PhD associate prof([email protected])
Liu Xiaoyu PhD assistant Prof([email protected]) Alexander Endler PhD
Medical Genetics
• 1.5 credits• Lecture:2 classes/week (9 weeks)• Lab:4 classes/week (4 weeks)
Medical GeneticsWeek Date Day Course
Content Teacher
10 11.12 Thu 3-4 Introduction / Medical Genetics Liu Wen 11 11.19 Thu 3-4 Single Gene Disorder Alexander Endler 12 11.27 Fri 5-8 Preparation of chromosome samples Liu Xiaoyu 12 11.26 Thu 3-4 Polygene Disorder / Mitochondrial Disease Liu Wen 13 12.4 Fri 5-8 G banding Liu Xiaoyu 13 12.3 Thu 3-4 Chromosomal Disease Alexander Endler 14 12.11 Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu 14 12.10 Thu 3-4 Genetics and Cancer/ Birth defect Liu Wen 15 12.18 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu 15 12.17 Thu 3-4 Students Presentation Liu Wen 16 12.24 Thu 3-4 Students presentation Liu Wen 17 12.31 Thu 3-4 Students presentation Liu Wen 18 1.7 Thu 3-4 Exam Liu Wen
Classroom : 2608
Lab : 13-214
Medical Genetics
• Text book• Reference
Medical Genetics
Exam: Presentation 50% Review OR Exam 30% Lab report 20%
Medical Genetics
IntroductionIntroduction
46,XY karyotype
Medical Genetics
Androgen insensitivity syndrome, AISAndrogen 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
IntroductionIntroduction
47,XXY (extra chromosome )Klinefelter sydrome
mania ??
•Mechanism
Medical Genetics
IntroductionIntroduction
Disease caused by (or related to) environmental stress.
Bird Flu (upper)
SARS (right)
Medical Genetics
IntroductionIntroduction
Disease caused by (or related to) genetic factors.
Many of the common physical featuresLow IQ
Down syndrome
Medical Genetics
Medical Genetics
IntroductionIntroduction
Duchenne muscular dystrophy caused by a gene mutation
Medical Genetics
Medical Genetics
IntroductionIntroduction
diseases caused by the combined action of gene and environment.
Conjoined Twins
connate rachitis
Medical Genetics
IntroductionIntroduction
Genetic Disorders : disorders caused wholly or partly by genetic factors.
Medical Genetics
What is Medical Genetics?What is Medical Genetics?
human genetics
Medical Genetics
What is Medical Genetics?What is Medical Genetics?
human genetics:
The science of variation and heredity in human beings.
Medical Genetics
Tongue rollingTongue rollingFree/attached ear lobeFree/attached ear lobe
Hair line of the foreheadHair line of the forehead
widow peakwidow peak
Evaginable thumb
Medical Genetics
What is 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?What is Medical Genetics?Medical Genetics
Wilson’s disease
Mechanism of Genetic Disease
Medical Genetics
What is 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?What is Medical Genetics?
Imagining Diagnosis
Medical Genetics
harelip
Medical Genetics
What is Medical Genetics?What is Medical Genetics? MolecularDiagnosis
incision enzyme
Gel electrophoresis
Medical Genetics
What is Medical Genetics?What is Medical Genetics?
Prevention
PKU/PAH (Phenylalanine hydroxylase)
phenylphruvic acid
Medical Genetics
What is Medical Genetics?What is Medical Genetics?
TherapyConsult
Medical Genetics
Genetic diseaseGenetic 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 diseaseGenetic disease
B. Characteristics of genetic disorders
1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious
Medical Genetics
Genetic diseaseGenetic disease
B. Characteristics of genetic disorders
1.population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious
Medical Genetics
xx
hemophiliahemophilia
Medical Genetics
Genetic diseaseGenetic 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 diseaseGenetic 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 diseaseGenetic disease
B. Characteristics of genetic disorders
1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious
Medical Genetics
Medical Genetics
Medical Genetics
Genetic diseaseGenetic disease
B. Characteristics of genetic disorders
1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious
Medical Genetics
Genetic diseaseGenetic disease
human prion diseases genetic and infectious
Neuron : Vacuolar degeneration
Medical Genetics
• Creutzfeldt - Jakob disease
tribe
Medical Genetics
Genetic diseaseGenetic 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 diseaseGenetic 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 diseaseGenetic 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 143890 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 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 22q11.2
Noonan综合征 Noonan syndrome 1 163950 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-q22
Peutz-Jeghers综合征 Peutz-Jeghers syndrome 175200 19p13.3
Von Willebrand病 Von Willebrand disease 193400 12p13.3
肌强直性营养不良 dystrophia myotonica 1 160900 19q13.2-q13.3
Medical Genetics
Genetic diseaseGenetic 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
Medical GeneticsPatau syndromePatau syndrome
Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.
Medical Genetics SymptomsSymptoms
• Physical characteristics
• Organ defects
• Mental retardation
Medical Geneticsphysical characteristicsphysical characteristics
cleft lip,cleft palate
small eyes
low-set ears
Medical Geneticsphysical characteristicsphysical characteristics
rocker foot
Medical GeneticsOrgan defectsOrgan defects
• heart defects
• spinal defects
Medical Genetics
• abnormal genitalia
• gastrointestinal hernias
• polycystic kidney disease
Medical Genetics
mental retardationmental 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 &TreatmentDiagnosis &Treatment• Diagnosis: chromosome analysis
• NO TREATMENT
Medical Genetics
Genetic diseaseGenetic diseaseC. 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 diseaseGenetic disease
Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.
Medical Genetics
Genetic diseaseGenetic 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 diseaseGenetic disease Somatic cell genetic diseases:
result from the altered genetic materials in somatic cells.
Medical Genetics
Medical Genetics
Genetic diseaseGenetic 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 diseaseGenetic 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-3243 tRNALeu(UUR) MELAS 、 PEO 、 NIDDM/耳聋
mt-3256 tRNALeu(UUR) PEO
mt-3271 tRNALeu(UUR) MELAS
mt-3303 tRNALeu(UUR) 心肌病mt-3260 tRNALeu(UUR) 心肌病 /肌病mt-4269 tRNAIle 心肌病mt-5730 tRNAAsn 肌病 (PEO)
mt-8344 tRNALys MERRF
mt-8356 tRNALys MERRF/MELAS
mt-15990 tRNAPro 肌病mt-8993 A6 NARP/LEIGH
mt-11778 ND4 LHON
mt-4160 ND1 LHON
mt-3460 ND1 LHON
mt-7444 COX1 LHON
mt-14484 ND6 LHON
mt-15257 Cyt6 LHON
Medical Genetics
The End