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）answer

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2010-2011(1) MBBS 口A Section A: Multiple-choice Questions(20%) 1. ABCD 2. ABd 3. ACD 4CD 5BC 6.ACDE 7.ABCD 8ADE 9ABCE 10.AB Section B Term explanation short-answer questions(30%) 1. X Chromosome inactivation X Chromosome heterochromatin is condensed chromatin that unfolds and becomes transcriptionally active during some portion of the cell cycle Barr boa小y 2. Chromosome translocations Chromosomal abnormalities which occur when chromosomes break and the fragments rejoin to other chromosomes 3. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth 4. Explain the classification of genetic diseases

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2010-2011 (1) MBBS □ A Section A: Multiple-choice Questions (20%) 1. ABCD 2. ABD 3. ACD 4.CD 5.BC 6.ACDE 7.ABCD .8ADE 9.ABCE 10.AB Section B Term explanation& Short-answer questions(30%) 1. X Chromosome inactivation X Chromosome heterochromatin is condensed chromatin that unfolds and becomes transcriptionally active during some portion of the cell cycle (Barr body). 2. Chromosome translocations Chromosomal abnormalities which occur when chromosomes break and the fragments rejoin to other chromosomes. 3. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. 4. Explain the classification of genetic diseases

1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders 5. analyze the pedigree, what inheritance model do you think? Why? a ad b ad or Xd Section C: Consulting (50%) l Key points: Toxoplasma and birth defect. Mother 's age and Down syndrome 2. Risks of Poly gene disorders determined by ()Recurrence risk increases with the number of affected children in a family (2) Recurrence risk increases with severity of the defect. A more severely affected parent is more likely to produce an affected child. 3)Consanguinity slightly increases the risk for an affected child. (4) If the two sexes have a different probability of being affected, the least likely sex, if affected, is the most likely sex to produce an affected offspring

1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders 5. analyze the pedigree，what inheritance model do you think? Why? a AD b AD or XD Section C: Consulting (50%) 1.Key points: Toxoplasma and birth defect. Mother’s age and Down syndrome 2. Risks of Poly gene disorders determined by (1) Recurrence risk increases with the number of affected children in a family. (2) Recurrence risk increases with severity of the defect. A more severely affected parent is more likely to produce an affected child. (3) Consanguinity slightly increases the risk for an affected child. (4) If the two sexes have a different probability of being affected, the least likely sex, if affected, is the most likely sex to produce an affected offspring

3. Key points: LHON iS mitochondrial disease, and DMd is Xr disease 4. Drawtheir pedigree first, CF is AR model

3. Key points: LHON is mitochondrial disease, and DMD is XR disease. 4.Draw their pedigree first, CF is AR model