医学遗传学复习资料.docVIP

2007级临床医学5班 医学遗传学复习资料名词解释： 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： 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？(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 genetic diseases 易患性 Mosaicism 分子病 单体型 Prior probabilities (in Bayesian analysis) 选择题： Which of the following prenatal diagnosis procedures can be performed earliest? Cordocentesis Maternal serum screening of AFP Amniocentesis Chorionic Villus Sampling There are four diseases below, indicate the one can NOT cured by bone marrow transplantation SCID (sever combined immuneodeficiency) Sickle cell disease Thalassemia Down syndrome Which of the following could be a cause for “graft-versus-host disease” Bone marrow transplantation Protein replacement Dietary restriction Vitamin B6 administration Select the one currently can NOT be used as a vector of DNA for gene therapy Retrovirus Adenovirus Liposome E.coli Which of the following diseases can NOT be detected by MSS triple test SCID Down Syndrome NTD Trisomy 18 Which of the following method is NOT suitable for DNA analysis in prenatal diagnosis DNA sequencing Immune-assay SSCP MLPA Which of the following should NOT be told by the genetic counseling professionals Risks of certain genetic disease Recommendations on prenatal diagnosis Order to terminate the current pregnancy Explanations on the result of prenatal diagnosis Which of the following should NOT be asked by the genetic counseling professionals Family history of certain genetic diseases Annual salary Health reports Ultrasound results Which of the following is the leading indication for taking prenatal diagnosis Maternal age Previous miscarriage history Occupation of parents Social behavior Indicate the samples taken from following procedures can NOT be used for chromosomal analysis