复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2012-2013（1）- B answer

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS B Section A Term explanation(24%) 1. Creutzfeldt-Jakob disease A kind ofprion disease, infectious disease 2. Patausyndrome Chromosomal disease, XX(Y, 47,+13 3. Philadelphia chromosome Philadelphia chromosome show that most of chromosome 22 has been translocated onto the long arm of chromosome 9. I This translocation which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia (CML) 4. Incompletely dominant Incomplete dominance occurs when the phenotype ofthe heterozygous genotype is distinct from and often intermediate to the phenotypes ofthe homozygous genotypes

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS □ B Section A Term explanation (24%) 1. Creutzfeldt－Jakob disease A kind of prion disease, infectious disease. 2. Patau syndrome Chromosomal disease, XX(XY),47,+13 3. Philadelphia chromosome Philadelphia chromosome show that most of chromosome 22 has been translocated onto the long arm of chromosome 9. I This translocation, which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia (CML). 4. Incompletely dominant Incomplete dominance occurs when the phenotype of the heterozygous genotype is distinct from and often intermediate to the phenotypes of the homozygous genotypes

5. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth 6. MERRF Myoclonic Epilepsy; Ragged Red Fibers, mtDNA point mutations CNS including: Myoclonus, Epilepsy 7. Susceptibility Risk of complex disease which determined by genes 8. FISH Fluorescence in situ hybridization Section B Short-answer questions(25%) 1. Explain the classification of spina bifida and describe the symptoms Spina bifida is a birth defect that involves the incomplete development of the spinal cord or its coverings. The term spina bifida comes from latin and literally means"split"or open"spine spina bifida occulta meningocele rachischisis

5. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. 6. MERRF Myoclonic Epilepsy; Ragged Red Fibers, mtDNA point mutations CNS including: Myoclonus ,Epilepsy.. 7. Susceptibility Risk of complex disease which determined by genes. 8. FISH Fluorescence in situ hybridization Section B Short-answer questions (25%) 1. Explain the classification of Spina bifida and describe the symptoms. Spina bifida is a birth defect that involves the incomplete development of the spinal cord or its coverings. The term spina bifida comes from Latin and literally means "split" or "open" spine. spina bifida occulta meningocele rachischisis

Arnold-Chiari malformation anencephalus 2. What is prenatal diagnosis of genetic disorders, give an example Prenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born 3. Describe the symptoms and the genotype of Huntington disease Huntington's disease is a neurodegenerative diseases, The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements 4. analyze the pedigree, what inheritance model do you think? Why? AD 5. analyze the pedigree, what inheritance model do you think? Why? Mitochondrial Section C: Consulting questions(51%) 1. Key points: DMD is XR, Sickle-cell disease is AR 2. Breast cancer is ploy gene disorder, and family history is dangerous factors. thalassemia iS AR

Arnold-Chiari malformation anencephalus 2. What is prenatal diagnosis of genetic disorders, give an example. Prenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born 3. Describe the symptoms and the genotype of Huntington disease. Huntington's disease is a neurodegenerative diseases, The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements. 4. analyze the pedigree，what inheritance model do you think? Why? AD 5. analyze the pedigree，what inheritance model do you think? Why? Mitochondrial Section C: Consulting & questions(51%) 1. Key points: DMD is XR,sickle-cell disease is AR. 2. Breast cancer is ploy gene disorder, and family history is dangerous factors, thalassemia is AR

3. Klinefelter syndrome is chromosomal disease, and lhon iS mitochondrial inheritance 4. Describe the clinical features of a multigene(i.e, complex' disorder) and use diagrams to exp lain how multip le genes can combine to produce different levels of risk of developing the disorder among first-, second- and third-degree relatives

3. Klinefelter syndrome is chromosomal disease, and LHON is mitochondrial inheritance. 4. Describe the clinical features of a multigene (i.e, “complex” disorder) and use diagrams to explain how multiple genes can combine to produce different levels of risk of developing the disorder among first-, second￾and third-degree relatives