复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2011-2012（1）

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2011-2012(1) MBBS 口A ame Student number section A B C Total scores scores Section A: choice Questions(20%) 1. Which is X-linked recessive inheritance A Down syndrome is an example B Retinoblastoma is an example C Show female to male transmission D. Are determined by both environmental and genetic factors E. The cause is a mutation affection the long arm of x chromosome 2. Which disease is a kind of mitochondrial disorder A DMD B MERRF C. Hutington's disease D. Turners syndrome E. Asthma 3. which gene does not involve in the cause of diabetes mellitus A DRD3 gene B HNF lalpha C glucokinase D. mitochondrial dna E IPF-1 4. Klinefelter Syndrome is A. The cause is a mutation affection the long arm ofX chromosome

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2011-2012 (1) MBBS □ A Name ： Student Number： section A B C Total scores scores Section A: choice Questions(20%) 1. Which is X-linked recessive inheritance A. Down syndrome is an example B. Retinoblastoma is an example C. Show female to male transmission D. Are determined by both environmental and genetic factors E. The cause is a mutation affection the long arm of X chromosome 2. Which disease is a kind of mitochondrial disorder A. DMD B. MERRF C. Hutington’s disease D. Turners syndrome E. Asthma 3. Which gene does not involve in the cause of diabetes mellitus : A. DRD3 gene B. HNF1alpha C. glucokinase D. mitochondrial DNA E. IPF-1 4. Klinefelter Syndrome is A. The cause is a mutation affection the long arm of X chromosome

B. It is commonly associated with congenital heart diease C. The cause is mtdna damage D. Sexually underdeveloped E. Is a fatal disease 5. Which is poly gene disorder A Schizophrenia B Cri du chat syndrome C Klinefelter Syndrome D. lhon E cystic fibrosis 6. Retinoblastoma is the tumor with A Single gene disorder B Mutifactorial disorder C. Related with chromosome translocation D p53 mutation E Infectious 7. Which one is not the environmental cause for birth defect A Virus B. Alcohol use in pregnancy C. Folic acid D Toxoplasma E Radiation 8. Characteristics of mitochondrial diseases A. Threshold effect B. X-linked C. Inherited from the father D Only female can be affected E affected bone and teeth 9. Which is the disorder with aR model A. meningocele B Kss syndrome C Parkinson disease D sickle cell anemia E Spina Bifida 10. Which is the infectious genetic disease A LHON B phocomelia C. albinism D prion diseases

B. It is commonly associated with congenital heart diease C. The cause is mtDNA damage D. Sexually underdeveloped E. Is a fatal disease 5. Which is polygene disorder: A. Schizophrenia B. Cri du Chat syndrome C. Klinefelter Syndrome D. LHON E. cystic fibrosis 6. Rentinoblastoma is the tumor with A. Single gene disorder B. Mutifactorial disorder C. Related with chromosome translocation D. p53 mutation E. Infectious 7. Which one is not the environmental cause for birth defect: A. Virus B．Alcohol use in pregnancy C．Folic acid D. Toxoplasma E. Radiation 8. Characteristics of mitochondrial diseases: A. Threshold effect B. X-linked C. Inherited from the father D. Only female can be affected E. Affected bone and teeth 9. Which is the disorder with AR model: A. meningocele B.KSS syndrome C. Parkinson disease D. sickle cell anemia E. Spina Bifida 10. Which is the infectious genetic disease: A. LHON B. phocomelia C. albinism D. prion diseases

E. Huntington disease Section B Term explanation Short-answer questions(30%) 1. Down syndrome 2. Philadelphia chromosome 3. Liability 4. Exp lain the characteristics of genetic disorders 5. Analyze the pedigree, what inheritance model do you think? why? Ⅳ Section C: Consulting (50%) 1. Mr a and Mrs a has a new born baby with albnism mr a said the baby is not his child, because he is health. The couples fight every day please help them

E.Huntington disease Section B Term explanation & Short-answer questions(30%) 1. Down syndrome 2. Philadelphia chromosome 3. Liability 4. Explain the Characteristics of genetic disorders 5. Analyze the pedigree，what inheritance model do you think? Why? a b Section C: Consulting (50%) 1. Mr A and Mrs A has a new born baby with albnism, Mr A said the baby is not his child, because he is health. The couples fight everyday, please help them

2. Mrs B(29-years-old) was pregnant, and the doctor suspected that mrs b got gestational diabetes. Since Mrs Bs mother. her brother and her grandmother had diabetes. Her mother has to use insulin every day Meantime, her grandfather has hypertension. Now she wants to know her risk of diabetes and hypertension in the future, Please consult for her 3. Mrs C(41-year-old) was pregnant with her third child, she is healthy and her husband(42-year-old) is a patient of lhon. But their two children are all the patients of Down syndrome. They p lan to have a baby again. Now they need your help, please consult for them 4. Miss d has family history with hemophilia disease (XR),her grand father and 2 uncles are suffered from the disease. Miss D want to know if her offspring will get the disease Answer sheet N Student number Section A: Multiple-choice Questions 678 Section b& c

2. Mrs B(29-years-old) was pregnant, and the doctor suspected that Mrs B got gestational diabetes. Since Mrs B’s mother, her brother and her grandmother had diabetes. Her mother has to use insulin every day. Meantime, her grandfather has hypertension. Now she wants to know her risk of diabetes and hypertension in the future, Please consult for her. 3. Mrs C(41-year-old) was pregnant with her third child, she is healthy, and her husband(42-year-old) is a patient of LHON. But their two children are all the patients of Down syndrome. They plan to have a baby again. Now they need your help, please consult for them. 4. Miss D has family history with hemophilia disease（XR）, her grandfather and 2 uncles are suffered from the disease. Miss D want to know if her offspring will get the disease. Answer sheet Name ： Student Number： Section A: Multiple-choice Questions 1 2 3 4 5 6 7 8 9 10 Section B & C