5 Lectures 10 Thu 3-4 Liu Wen 11 12 13 14 15 16 17 18 Classroom：1402 Week Date Day CourseContent Teacher1011.11Thu3-4Medical Genetics & Genetic diseaseLiu Wen1111.18Single Gene DisorderAlexander Endler1211.25Polygene Disorder1312.2Chromosomal Disease1412.9Mitochondrial Disease1512.16Genetics and Cancer1612.23Birth defect1712.30Students presentation181.7Exam Classroom：1402
6 Lab training Lab：13-214 11 Fri 5-8 12 14 15 Week Date Day Course Content Teacher1111.19Fri5-8Preparation of chromosome samplesLiu Xiaoyu1211.26G banding & samples of chromosome diseases1412.10Extraction of Genomic DNA1512.17Detection of gene mutation by PCRLab：13-214
7 Thompson & Thompson Genetics in Medicine, 7th Text bookReferenceThompson & Thompson Genetics in Medicine, 7thPrinciples of Medical Genetics (Williams & Wikins)
10 Androgen insensitivity syndrome, AIS MechanismCaused by mutations of the gene encoding the androgen receptor.symptomsA person with complete androgen insensitivity syndrome (CAIS) has a female external appearance, and suppressed menstruation.
25 What is 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.
26 What is Medical Genetics? Wilson’s diseaseMechanism of Genetic Disease
27 What is Medical Genetics? Clinical Geneticsthe application to diagnosis andpatient care
28 What is Medical Genetics? diagnosisalbinismSickle cell anemia
34 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.
35 Genetic disease B. Characteristics of genetic disorders 1. congenital 2. mode of inheritance3. population distribution4. familial5. infectious
36 Genetic disease B. Characteristics of genetic disorders 1. congenital 2. mode of inheritance3. population distribution4. familial5. infectious
64 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.
65 Genetic diseaseMultifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.