01 　医学遗传学绪论 introduction to medical genetics

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


47,XXY (extra chromosome )Klinefelter sydrome

mania ??

•Mechanism

Medical Genetics


Disease caused by (or related to) environmental stress.

Bird Flu (upper)

SARS (right)

Medical Genetics


Disease caused by (or related to) genetic factors.

Many of the common physical featuresLow IQ

Down syndrome

Medical Genetics

Medical Genetics


Duchenne muscular dystrophy caused by a gene mutation

Medical Genetics

Medical Genetics


diseases caused by the combined action of gene and environment.

Conjoined Twins

connate rachitis

Medical Genetics


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

Medical Genetics

What is Medical Genetics?What is Medical Genetics?

human genetics

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


Clinical Genetics the application to diagnosis and patient care

Medical Genetics

What is Medical Genetics?

diagnosis

Sickle cell anemia

albinism

Medical Genetics


Imagining Diagnosis

Medical Genetics

harelip

Medical Genetics

What is Medical Genetics?What is Medical Genetics? MolecularDiagnosis

incision enzyme

Gel electrophoresis

Medical Genetics


Prevention

PKU/PAH (Phenylalanine hydroxylase)

phenylphruvic acid

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



1.population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

Medical Genetics

xx

hemophiliahemophilia

Medical Genetics




Medical Genetics

3 Pedigree of Genetic Disease

Medical Genetics




Medical Genetics

albinism

Down syndrome

Medical Genetics




Medical Genetics


human prion diseases genetic and infectious

Neuron ： Vacuolar degeneration

Medical Genetics

• Creutzfeldt － Jakob disease

tribe

Medical Genetics


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


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




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


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


Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.

Medical Genetics




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 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

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01 医学遗传学绪论 introduction to medical genetics

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01 　医学遗传学绪论 introduction to medical genetics