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1、Zxx|v | xw|v|x Zxx|v | xw|v|x 医学遗传学复习资料 医学遗传学复习资料 20091112 20091112 目录目录 历年考试题汇总 . 1 20090703 (八年制) 1 20090428 (五年制) 1 20080630 (八年制) 2 20080630 (八年制.补考题) . 3 20050419 . 4 Genetics in Medicine 20091112 医学遗传学复习资料 1 版权所有：霍晓宁 历年考试题汇总历年考试题汇总 20090703 (八年制) 选择题：选择题： 1、与手或手臂异常相关的基因病：CBP or HOXD13 单基因病 2、
2、基因流 3、常染色体遗传病的遗传规律 4、能检测前期细胞：FISH 5、最佳检测染色体拷贝数异常的技术是 名词解释：名词解释： 数量性状 分子病 遗传异质性 嵌合体 问答题：问答题： 1、计算白化病近亲结婚的风险增加 2、异常血红蛋白的分子机制(6 个) 3、原癌基因的激活机制 4、见教材遗传咨询章，课后习题第三题 20090428 (五年制) 选择题：选择题： 1、核小体的概念 2、Bart 小体出现在 X 失活现象的细胞里 3、遗传物质的复制在 S 期 4、G1期对变异很关键 5、Familial hypercholesterolemia 的三种治疗方式的机理，抑制调节是抑制 HMG-CO
3、A 的活性 6、干细胞的特性 7、有特异性功能的细胞是由干细胞经哪两部分化来的 8、蛋白质代谢病的四种类型：loss of function、gain of function、novel property、mutations associated with heterochronic and ectopic gene expression，并掌握每个类型的例子 9、Gaucher、Fabry 的致病机理及治疗：前者是酶替代，后者指加强蛋白功能 10、多基因遗传病的遗传特点 11、DNA 复制的细线期、偶线期、粗线期还有其他期，掌握各期都发生了什么变化 12、唇腭裂和小下巴：robin sequ
4、ence 决定 名词解释：名词解释： 遗传异质性 遗传率 遗传性酶病 基因诊断 假基因 癌基因 奠基者效应 探针 问答题：问答题： 1、单基因遗传病与多基因遗传病的区别 2、非整倍体染色体的形成机制 3、群体基因概率的计算(与遗传咨询实验课上的题目类似) 4、应用贝叶斯公式的计算 Genetics in Medicine 20091112 医学遗传学复习资料 2 版权所有：霍晓宁 20080630 (八年制) 名词解释：名词解释： 核型分析 同源染色体 致癌基因 遗传多态性 Depletion treatment for genetic diseases 易患性 Mosaicism 分子病
5、单体型 Prior probabilities (in Bayesian analysis) 选择题：选择题： 1. Which of the following prenatal diagnosis procedures can be performed earliest? A. Cordocentesis B. Maternal serum screening of AFP C. Amniocentesis D. Chorionic Villus Sampling 2. There are four diseases below, indicate the one can NOT cure
6、d by bone marrow transplantation A. SCID (sever combined immuneodeficiency) B. Sickle cell disease C. Thalassemia D. Down syndrome 3. Which of the following could be a cause for “graft-versus-host disease” A. Bone marrow transplantation B. Protein replacement C. Dietary restriction D. Vitamin B6 adm
7、inistration 4. Select the one currently can NOT be used as a vector of DNA for gene therapy A. Retrovirus B. Adenovirus C. Liposome D. E.coli 5. Which of the following diseases can NOT be detected by MSS triple test A. SCID B. Down Syndrome C. NTD D. Trisomy 18 6. Which of the following method is NO
8、T suitable for DNA analysis in prenatal diagnosis A. DNA sequencing B. Immune-assay C. SSCP D. MLPA 7. Which of the following should NOT be told by the genetic counseling professionals A. Risks of certain genetic disease B. Recommendations on prenatal diagnosis C. Order to terminate the current preg
9、nancy Genetics in Medicine 20091112 医学遗传学复习资料 3 版权所有：霍晓宁 D. Explanations on the result of prenatal diagnosis 8. Which of the following should NOT be asked by the genetic counseling professionals A. Family history of certain genetic diseases B. Annual salary C. Health reports D. Ultrasound results 9
10、. Which of the following is the leading indication for taking prenatal diagnosis A. Maternal age B. Previous miscarriage history C. Occupation of parents D. Social behavior 10. Indicate the samples taken from following procedures can NOT be used for chromosomal analysis. A. Aminocentesis B. CVS C. C
11、ordocentesis D. MSS 单选答案： 1-5 D D A D A 6-10 B C B A D 问答题：问答题： 1、白化病近亲婚配患病风险的估计 2、p53 基因的功能及其激活机制 3、分子病的 6 个机制 4、You are addressing a Neurofibromatosis Association parents meeting. A severely affected woman, 32 years old, comments that she is not at risk of passing on the disorder because her paren
12、ts are not affected and her neurofibromatosis, therefore, is due to a new mutation. Comment. 20080630 (八年制.补考题) 选择题：选择题： 1. If want to deliver DNA in to specific tissue for gene therapy, which of the following vector is NOT currently widely used. A. Picornavirus B. Retrovirus C. Liposome D. Adeno-as
13、sociated virus 2. Select the one can be treated by inhibition treatment A. Fragile X syndrome B. Familial Hypercholesterolemia C. Hemophilia D. Trisomy 13 3. Which of the following can be cured by gene therapy Genetics in Medicine 20091112 医学遗传学复习资料 4 版权所有：霍晓宁 A. Trisomy 21 B. PKU (age 22, not trea
14、ted before) C. Fragile X syndrome D. ADA deficiency 4. Which of the following disease can NOT be detected by ultrasound scans A. Clubfoot B. CHD （congenital heart defect） C. NTD D. PKU 5. Select the best vector for delivering therapeutic DNA into non-dividing cells genome. A. Naked DNA B. Retrovirus
15、es C. DNA tagged with protein D. Adenoviruses 单选答案： 1-5 A A D D D 名词解释：名词解释：conditional probabilities (in Bayesian analysis) 问答题：问答题： A 30-year-old woman with myotonic dystrophy comes in for counseling. Her son, aged 14, shows no symptoms, but she wishes to know whether he will be affected with this
16、 autosomal dominant condition later in life. Approximately half of individuals carrying the mutant gene are asymptomatic before age 14. What is the risk that the son will eventually develop myotonic dystrophy? 20050419 名词解释：名词解释： FISH荧光原位杂交 遗传异质性 染色体多态性 探针 基因组 分子病 标记染色体 基因治疗 基因簇 易感性 问答题：问答题： 1、脆性 X 染色体综合征的临床表现和分子机制 2、以镰刀形细胞贫血症为例，说明分子病的致病机理 3、某常染色体隐性疾病的患病率为 10-6，问 a.随机婚配的发病风险 b.一个携带者和一个
