复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2010-2011（1）

Shanghai Medical College of Fudan University Final Exam of medical Genetics in 2010-2011(1) MBBS 口A ame Student number section A B C Total scores scores Section A: Multiple-choice Questions(20%) 1 X-linked recessive inheritance A. An affected male will have daughters who are all carriers B. Are transmitted by carrier females C. Show female to male transmission D Hemophilia is an example E Down syndrome is an example 2. In Duchene muscular dystrophy A Dystrophy is the largest known gene B Dystrophy is located on cell membrane of muscular C. Dystrophy is an enzyme D. Cause weakness in the muscles E. X-linked dominant inheritance 3. Multifactorial disorders A. Are determined by both environmental and genetic factors

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2010-2011 (1) MBBS □ A Name ： Student Number： section A B C Total scores scores Section A: Multiple-choice Questions (20%) 1. X-linked recessive inheritance A. An affected male will have daughters who are all carriers B. Are transmitted by carrier females C. Show female to male transmission D. Hemophilia is an example E. Down syndrome is an example 2. In Duchene muscular dystrophy: A. Dystrophy is the largest known gene B. Dystrophy is located on cell membrane of muscular C. Dystrophy is an enzyme D. Cause weakness in the muscles E. X-linked dominant inheritance 3. Multifactorial disorders: A. Are determined by both environmental and genetic factors

B. Hutington's disease is an example C. They must involve more than one gene D Hypertension is an example E. Are mendelian inheritance 4. In Turners syndrome A. The cause is a mutation affection the long arm ofX chromosome B. It is commonly associated with congenital heart diease C. The cause is monosomy D. Sexually underdeveloped E. Is a fatal disease 5. Which are not polygene disorders A Schizophrenia B Cri du chat syndrome C Klinefelter Syndrome D. Platelip E Spinal bifid 6. Characteristics of genetic disorders A Congenital B Mutifactorial C. Popular D. Familial E. Infectious 7. Environmental causes for birth defect including A antibiotic B. Alcohol use in pregnancy C. Lacking of folic acid D. Toxoplasma E. Vitamin C 8. Characteristics ofmitochondrial diseases A. Threshold effect B. X-linked C. Inherited from the father D Mitotic segregation E. Affected heart, brain and muscle

B. Hutington’s disease is an example C. They must involve more than one gene. D. Hypertension is an example E. Are Mendelian inheritance 4. In Turner’s syndrome: 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 monosomy D. Sexually underdeveloped E. Is a fatal disease 5. Which are not polygene disorders: A. Schizophrenia B. Cri du Chat syndrome C. Klinefelter Syndrome D. Plate lip E. Spinal bifid 6. Characteristics of genetic disorders A. Congenital B. Mutifactorial C. Popular D. Familial E. Infectious 7. Environmental causes for birth defect including: A. antibiotic B．Alcohol use in pregnancy C．Lacking of folic acid D. Toxoplasma E. Vitamin C 8. Characteristics of mitochondrial diseases: A. Threshold effect B. X-linked C. Inherited from the father D. Mitotic segregation E. Affected heart, brain and muscle

9. Cancer A. Is a multifactorial disease B. may be inherited C. somatic cell genetic disorders D Congenital E Can detected the mutation ofoncogene 10. Related genes ofSP A DRD3 B. 5-HTR2A C HNF lalpha DATP7B EDJ-1 Section B Term explanation short-answer questions(30%) 1. X Chromosome inactivation 2. Chromosome translocations 3. Birth defect 4. Explain the classification of genetic diseases 5. analyze the pedigree, what inheritance model do you think? Why? 12 Ⅱ○口 2345 b II

9. Cancer: A. Is a multifactorial disease B. May be inherited C. somatic cell genetic disorders D. Congenital E. Can detected the mutation of oncogene 10. Related genes of SP: A. DRD3 B.5-HTR2A C.HNF1alpha D.ATP7B E.DJ-1 Section B Term explanation & Short-answer questions(30%) 1. X Chromosome inactivation 2. Chromosome translocations 3. Birth defect 4. Explain the classification of genetic diseases 5. analyze the pedigree，what inheritance model do you think? Why? a b

Section C: Consulting(50%) 1. Mr a is 45-year-old, and his wife is 38-year-old. Now Mrs ais pregnant, and the prenatal diagnosis showed Mrs. a was infected with Toxoplasma. Mr a also got some information from website, which shows a woman with age above 35 is easy to have Down syndrome baby. They are very worry about their baby, and come to see you, the consulter. Mr a ask: If our baby will have some birth defect? 2. Mr B(34-year-old )suspected he had got diabetes because he had some symptoms recently, such as thirst and weight loss. His grandfather, his father and 2 uncles are all the patients of diabetes, and his father has to use insulin every day. Please consult for him. Meanwhile, he also want to know his risk of hypertension, because his grandma has hypertension, but not severe 3. Mrs C(28-year-old) is a patient of lHON, and her husband (32-year-old) is a patient of Duchenne Muscular Dystrophies(DMD ).They p lan to have a baby Now they need your help, please consult for them 4. Mrs D is pregnant with her fifth child. She tells you that her eldest son who has cystic fibrosis(CF), and died aged 20 of a resp iratory infection The couple and their three other children are not affected with this condition. She worried the fetus may have CF. Please draw their pedigree and analyze it for Mrs d

Section C: Consulting (50%) 1. Mr A is 45-year-old, and his wife is 38-year-old. Now Mrs Ais pregnant, and the prenatal diagnosis showed Mrs.A was infected with Toxoplasma. Mr A also got some information from website, which shows a woman with age above 35 is easy to have Down syndrome baby. They are very worry about their baby, and come to see you, the consulter. Mr A ask: “If our baby will have some birth defect? ” 2. Mr B(34-year-old) suspected he had got diabetes because he had some symptoms recently, such as thirst and weight loss. His grandfather, his father and 2 uncles are all the patients of diabetes, and his father has to use insulin every day. Please consult for him. Meanwhile, he also want to know his risk of hypertension, because his grandma has hypertension, but not severe. 3. Mrs C(28-year-old) is a patient of LHON, and her husband(32-year-old) is a patient of Duchenne Muscular Dystrophies (DMD).They plan to have a baby. Now they need your help, please consult for them. 4. Mrs D is pregnant with her fifth child. She tells you that her eldest son, who has cystic fibrosis (CF), and died aged 20 of a respiratory infection. The couple and their three other children are not affected with this condition. She worried the fetus may have CF. Please draw their pedigree and analyze it for Mrs D

Answer sheet Name Student number Section A: Multiple-choice Questions 4 678 10 Section B C

Answer sheet Name ： Student Number： Section A: Multiple-choice Questions 1 2 3 4 5 6 7 8 9 10 Section B & C