2007级临床医学5班医学遗传学复习资料20050419名词解释：遗传异质性染色体多态性探针基因组FISH荧光原位杂交分子病标记染色体基因治疗基因簇易感性问答题：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.一个携带者和一个正常人婚配的发病风险c.二级表兄妹(从表兄妹)婚配的发病风险4、计算题：某女子的家族中有多个成员患有DMD(XD)，她的姨妈的儿子和舅父都是死于该病，她生有两个正常的儿子，问再生一个孩子患病的概率是多少？20080630 (八年制)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 geneticdiseases易患性Mosaicism分子病单体型Prior probabilities (in Bayesiananalysis)选择题：1.Which of the following prenatal diagnosis procedures can be performedearliest?A.CordocentesisB.Maternal serum screening of AFPC.AmniocentesisD.Chorionic Villus Sampling2.There are four diseases below, indicate the one can NOT cured by bone marrowtransplantationA.SCID (sever combined immuneodeficiency)B.Sickle cell diseaseC.ThalassemiaD.Down syndrome3.Which of the following could be a cause for “graft-versus-host disease”A.Bone marrow transplantationB.Protein replacementC.Dietary restrictionD.Vitamin B6 administration4.Select the one currently can NOT be used as a vector of DNA for gene therapyA.RetrovirusB.AdenovirusC.LiposomeD. E.coli5.Which of the following diseases can NOT be detected by MSS triple testA.SCIDB.Down SyndromeC.NTDD.Trisomy 186.Which of the following method is NOT suitable for DNA analysis in prenataldiagnosisA.DNA sequencingB.Immune-assayC.SSCPD.MLPA7.Which of the following should NOT be told by the genetic counselingprofessionalsA.Risks of certain genetic diseaseB.Recommendations on prenatal diagnosisC.Order to terminate the current pregnancyD.Explanations on the result of prenatal diagnosis8.Which of the following should NOT be asked by the genetic counselingprofessionalsA.Family history of certain genetic diseasesB.Annual salaryC.Health reportsD.Ultrasound results9.Which of the following is the leading indication for taking prenatal diagnosisA.Maternal ageB.Previous miscarriage historyC.Occupation of parentsD.Social behavior10.Indicate the samples taken from following procedures can NOT be used forchromosomal analysis.A.AminocentesisB.CVSC.CordocentesisD.MSS单选答案： 1-5 D D A D A 6-10 B C B A D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 parents are not affected and her neurofibromatosis, therefore, is due to a new mutation. Comment.20080630 (八年制)补考题选择题：1. If want to deliver DNA in to specific tissue for gene therapy, which of the following vector is NOT currently widely used.A. PicornavirusB. RetrovirusC. LiposomeD. Adeno-associated virus2.Select the one can be treated by inhibition treatmentA.Fragile X syndromeB.Familial HypercholesterolemiaC.HemophiliaD.Trisomy 133.Which of the following can be cured by gene therapyA.Trisomy 21B.PKU (age 22, not treated before)C.Fragile X syndromeD.ADA deficiency4.Which of the following disease can NOT be detected by ultrasound scansA.ClubfootB.CHD （congenital heart defect）C.NTDD.PKU5.Select the best vector for delivering therapeutic DNA into non-dividingcells’ genome.A.Naked DNAB.RetrovirusesC.DNA tagged with proteinD.Adenoviruses单选答案： 1-5 A A D D D名词解释：conditional probabilities (in Bayesian analysis)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 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?20090428 (五年制)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-COA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 sequence决定名词解释：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：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20090703 (八年制)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、基因流3、常染色体遗传病的遗传规律4、能检测前期细胞：FISH5、最佳检测染色体拷贝数异常的技术是名词解释：数量性状分子病遗传异质性嵌合体问答题：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.。