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名词解释

  1. Proto-oncogene
  2. Epigenetics
  3. Gene frequency
  4. Heteroplasmy
  5. Dynamic mutation (2)
  6. Imprint
  7. Delayed dominance
  8. Hereditary?
  9. Gene gun
  10. Linkage? (3)
  11. Hereditability (2)
  12. Aneuploidy (2)
  13. pleiotropy
  14. RFLP(2)
  15. Susceptibility
  16. Anticipation
  17. Founder effect
  18. Pseudogene (2)
  19. Proband (2)
  20. Carrier
  21. Gene therapy
  22. Hemoglobin gene family (2)
  23. Allele
  24. Karyotype analysis
  25. Over-production disease
  26. Locus heterogeneity
  27. Antisense RNA
  28. Gene
  29. Sickle-cell anemia
  30. Genetic heterogeneity
  31. Polyploidy
  32. Penetrance
  33. Cordocentesis
  34. Oncogene
  35. Gene imprinting
  36. phenocopy

简答

Key points: Heterogeneity, anticipation, Guthrie test, genomic imprinting, X-R characteristics, Hardy-Weinberg equilibrium, linkage

  1. What is Ph chromosome?
  2. The characteristics of AR(autosomal recessive disorder)
  3. The characteristics of AD
  4. Two women both have G6PD gene mutation, one has severe phenotype, the other seems normal, why?
  5. The characteristics of human genome
  6. The similarities and differences of monogenetic and polygenetic disease
  7. List teratogen you know( 2 ) terogent agents
  8. Molecular pathogenesis of sickle cell anemia
  9. Factor disturb Hardy-Weinberg equilibrium (2)
  10. What is Hardy-Weinberg equilibrium
  11. Significance of carrier screening, and what is carrier (3)
  12. What is genetic heterogeneity, give an example
  13. Give an example to the indication of the mechanism of genetic heterogeneity
  14. Pedigree characteristics of X-recessive inheritance (3)
  15. Explain germline and somatic cell genetic therapy
  16. What is anticipation, give an example (2)
  17. Guthrie test
  18. Describe the mechanism of Guthrie's bacterial inhibition assay
  19. CGH mechanism (comparative genomic hybridization), explain and give an example (2)
  20. The roles of epigenetics in cancer
  21. What is genomic imprinting, give an example
  22. What is “third base waffling” of codons
  23. What is liability (2)
  24. Describe the types of hemoglobin in human adult (3)
  25. Please describe the treatment of metabolic abnormality briefly
  26. What is physical map
  27. Please list types of human chromosomes by the position of the centrosome
  28. The clinical classification of beta-thalassemia
  29. Types of RNA
  30. Types of non-coding RNA
  31. Why linkage analysis can be used for gene mapping?
  32. What is the incidence of disorder greatest in close relative of more severely affected patient
  33. What is deformation
  34. What is non-invasive prenatal diagnosis, give an example (2)
  35. 同源基因的定义和类型

大题

  1. The generation of trisomy 21 (必须掌握, especially the translocation Down syndrome)
  2. Multistage carcinogenesis theory （multistage hypothesis of tumor genesis）
  3. 第二题的变体：genetics mechanism of Rb
  4. Application an type of association study
  5. Explain the RNAi mechanism (必须掌握)
  6. The types of linkage anlysis and the application
  7. What is the use of Hardy-Weinberg equilibrium
  8. What is Hardy-Weinberg equilibrium principle and the assumption of the principle
  9. Prenatal diagnosis of hemophilia A, why? Check for factor VIII gene and protein (2)
  10. Give 2 examples to indicate the significance and strategies of prenatal diagnosis and neonatal screening.
  11. The consequence of gene mutation
  12. List inheritance pattern
  13. List simple congenital abnormalities
  14. Comment on the techniques of prenatal diagnosis. Do you have any ideas to improve them?
  15. How to identify genetic or environmental susceptibility of cancer
  16. What are the genetic factor of congenital malformation (2)
  17. What is the use of Hardy-Weinberg equilibrium
  18. Why the risk of Down syndrome increase to the older mother
  19. What are the most severe alpha and beta thalassemia? why some died at birth and some not so severe
  20. Prenatal testing for down syndrome, Edward syndrome and NTD (neural tube defect)
  21. A Chinese couple’s daughter (5 years old) have severe alpha- thalassemia. What is the genotype of the daughter? What is the genotype of the parents? If they want to have another baby, how about the risk of alpha-thalassemia （2, 另一年小女孩3岁）
  22. Both parents are heterozygote of sickle anemia, 18 weeks after implantation now, what prenatal diagnosis can be performed, why?
  23. Both parents are heterozygote of beta-thalassemia, 28 weeks after implantation now, what prenatal diagnosis can be performed, why?
  24. A pregnant woman, who had had a boy with hemophilia A came to see a doctor at 23 weeks gestation, What prenatal test should be performed? And why?
  25. A pregnant woman, who was heterozygous of albinism, came to see a doctor at 23weeks gestation. What prenatal test should be performed What are the reasons

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