Medical Genetics 01 introduction to medical Genetics Medical

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

Medical Genetics • Arrangement • Introduction • Medical Genetics • Genetic disease

Medical Genetics Arrangement Teacher: Liu Wen Ph. D associate prof (liuwen@shmu. edu. cn) Liu

Medical Genetics • 1. 5 credits • Lecture: 2 classes/week (9 weeks) • Lab:

Medical Genetics Lectures Week Date 10 11. 11 Thu 3 -4 Medical Genetics &

Medical Genetics Lab training Week Date Day Course Content Teacher 11 11. 19 Fri

Medical Genetics • Text book • Reference Thompson & Thompson Genetics in Medicine, 7

Medical Genetics Exam: Exam 40% Presentation 30% Lab report 20% Homework 10％

Medical Genetics Introduction 46, XY karyotype

Medical Genetics Androgen insensitivity syndrome, AIS • Mechanism Caused by mutations of the gene

Medical Genetics androgen insensitivity syndrome， AIS （雄激素不敏感综合征） XR 46, XY karyotype retained testis

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

Medical Genetics Introduction-Disease and Genetics A. Disease caused by (or related to) environmental stress.

Medical Genetics Introduction-Disease and Genetics Down syndrome Many of the common physical features Low

Medical Genetics Introduction-Disease and Genetics Duchenne muscular dystrophy caused by a gene mutation

Medical Genetics Introduction-Disease and Genetics connate rachitis Conjoined Twins C. diseases caused by the

Medical Genetics 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

Medical Genetics dominate widow peak Evaginable thumb dominate recessive Hair line of the forehead

Homework ☆ Pedigree： Medical Genetics Nov 25 th

Medical Genetics What is Medical Genetics? Medical Genetics : Medical genetics deals with human

Medical Genetics What is Medical Genetics? Medical Genetics son’s disease Wil Mechanism of Genetic

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

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

Medical Genetics What is Medical Genetics? Imagining Diagnosis

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

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

Medical Genetics What is Medical Genetics? Therapy Consult

Medical Genetics Genetic disease A. What is genetic disorder? A genetic disorder is a

Medical Genetics Genetic disease B. Characteristics of genetic disorders 1. congenital 2. mode of

Medical Genetics 3 Pedigree of Genetic Disease

Medical Genetics x hemophilia （Blood clotting，to bleed）

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

Medical Genetics Genetic disease Single-gene disorders result when a mutation causes the protein product

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 19 p 13.

Medical Genetics In chromosome disorders, entire chromosomes, or large segments of them, are missing,

Medical Genetics Patau syndrome Trisomy 13 -- the presence of an extra (third) chromosome

Medical Genetics Symptoms • Physical characteristics • Organ defects • Mental retardation

Medical Genetics physical characteristics small eyes cleft lip, cleft palate 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 Ø 99％do not survive gestation and are spontaneously aborted Ø 82 -85%

Medical Genetics Diagnosis &Treatment • Diagnosis: chromosome analysis • NO TREATMENT

Medical Genetics Multiple genes are missing as a result of this deletion, and each

Medical Genetics Genetic disease Multifactorial disorders result from mutations in multiple genes, often coupled

Medical Genetics Genetic disease Somatic cell genetic diseases: result from the altered genetic materials

Medical Genetics Genetic disease Mitochondrial genetic diseases: Due to the mutation of mitochondrial DNA.

Medical Genetics 一些mt. DNA突变相关的疾病突� 相关基因表型 mt-3243 t. RNALeu(UUR) MELAS、PEO、NIDDM/耳� mt-3256 t. RNALeu(UUR)

Slides: 72

Download presentation

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

Medical Genetics • Arrangement • Introduction • Medical Genetics • Genetic disease

Medical Genetics Arrangement Teacher: Liu Wen Ph. D associate prof (liuwen@shmu. edu. cn) Liu Xiaoyu Ph. D assistant Prof (liubio@163. com) Alexander Endler Ph. D

Medical Genetics • 1. 5 credits • Lecture: 2 classes/week (9 weeks) • Lab: 4 classes/week (4 weeks)

Medical Genetics Lectures Week Date 10 11. 11 Thu 3 -4 Medical Genetics & Genetic disease 11 11. 18 Thu 3 -4 Single Gene Disorder 12 11. 25 Thu 3 -4 Polygene Disorder 13 12. 2 Thu 3 -4 Chromosomal Disease 14 12. 9 Thu 3 -4 15 12. 16 Thu 3 -4 16 12. 23 Thu 3 -4 17 12. 30 Thu 3 -4 18 1. 7 Thu 3 -4 　　　 Classroom： 1402 Day Course Content Teacher Liu Wen 　 Alexander Endler 　 Mitochondrial Disease Liu Wen 　 Genetics and Cancer Liu Wen 　　　 Birth defect Students presentation Exam　　　

Medical Genetics Lab training Week Date Day Course Content Teacher 11 11. 19 Fri 5 -8 Preparation of chromosome samples Liu Xiaoyu 　 12 11. 26 Fri 5 -8 G banding & samples of chromosome diseases Liu Xiaoyu 　 14 12. 10 Fri 5 -8 Extraction of Genomic DNA Liu Xiaoyu 　 15 12. 17 Fri 5 -8 Detection of gene mutation by PCR Liu Xiaoyu 　　　 Lab： 13 -214 　

Medical Genetics • Text book • Reference Thompson & Thompson Genetics in Medicine, 7 th Principles of Medical Genetics (Williams & Wikins)

Medical Genetics Exam: Exam 40% Presentation 30% Lab report 20% Homework 10％

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 androgen insensitivity syndrome， AIS （雄激素不敏感综合征） XR 46, XY karyotype retained testis

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

Medical Genetics Introduction-Disease and Genetics A. Disease caused by (or related to) environmental stress. Bird Flu SARS H 1 N 1 Flu

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

Medical Genetics

Medical Genetics Introduction-Disease and Genetics Duchenne muscular dystrophy caused by a gene mutation

Medical Genetics

Medical Genetics Introduction-Disease and Genetics connate rachitis Conjoined Twins C. diseases caused by the combined action of gene and environment.

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

Homework ☆ Pedigree： Medical Genetics Nov 25 th

Medical Genetics Symbols

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 son’s disease Wil 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 albinism Sickle cell anemia

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 phenylphruvic acid prenatal diagnosis PKU/PAH (Phenylalanine hydroxylase)

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.