遗传咨询师考试题库终极版(2)

判断题

7.Thalassemias can arise in the following types of mutations: deletions and single nucleotide variations(SNV).true

8.The mutation spectrum difference between α-thalassemia andβ-thalassemia is thatα-thalassemia is mainly caused by point mutations and β-thalassemia is mainly caused by deletions.false 9.Mutations in different genes of a gene cluster result in the same disease subtype。false

10.The main types of inborn errors of metabolism(IEM) include Amino Acids Metabolism Disorders,Organic Acidemias, Fatty Acid Oxidation Disorders, Carbohydrate Metabolism Disorders, Lysosomal Storage Disorders and Peroxisomal Disorders. As IEM always result in inbalanced concentrations of substrates and end-products or by-producs or intermediates, We can roughly diagnose certain type of 1. Molecular genetic testing can be classified into two categories, in asymptomatic persons the testing is often a ( ) testing which is used to identify family members who have the disease-causing mutation before symptoms appear so that they can be monitored for early signs of the disease and treated promptly to reduce morbidity and mortality (e.g., HNPCC); while in symptomatic persons the testing is often called a ( ) testing which is used for establishing a diagnosis or confirming a diagnosis.

A. diagnostic, diagnosticdiagnostic, predictive

B. predictive, predictive

C.

D. predictive, diagnostic

2. The (genetests ) is a good Internet information resource for healthcare providers to help integrate genetic services into patient care.

3. Which statement about essential elements in a genetic testing for clinicians is NOT true

A. Clinicians should have educational materials about the disease and the test

B. Clinicians should have test result report forms that explain the test and the patient’s test result

C. Clinicians should have collection of data on phenotype and genotype

D. Essential elements of genetic testing are easy to be aquired 4. In the following mutation screening strategies, which is the most effective and breadth-covered in nowadays?

A. Chromosome banding(MS)

B. FISH

C. Mass spectrometry

D. Next Generation Sequencing(NGS)

5. Challenges of Genetic testing of Inherited retinal dystrophy include: ( ). (Here you can choose one or more options)

A. The clinical diagnosis may or may not be specificinheritance mode is not clear for the isolated casesprogression of condition can take several decadesheterogeneity

6. How to determine whether someone should adopt a genetic testing or not?

B. The

C. The D. Locus

A. The causative gene or susceptibility genes have already been identified.

B. The result of the genetic testing will help with the

treatment or prevention of disease and benefits of the detection greatly exceed risks.

C. Time-effective.

D. Economic-effective.

E. The testing actors should have valid qualification

7. In USA, testing used in patient care can be done in both “clinical” and “research” laboratories.false

8. Preimplantation genetic diagnosis (PGD) is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation.TRUE 9. Presymptomatic testing can both predict adult-onset disorders such as Huntington's disease and estimate the risk of developing adult-onset cancers and Alzheimer's disease. TRUE

10. If a female is positive to have a high-risk breast cancer allele after genetic testing, she can have a mastectomy to avoid breat cancer and will never suffer from breat cancer in later years.false

肠道微生态

结课作业 (6/15 分) 一、选择题

1.一个正常人身上包含的微生物细胞数目是人自身细胞数目的约（10）倍。 2.截至课程介绍的最新研究成果，人胃肠道微生物组的基因数目是人自身基因组包含的基因数目的约（300）倍。

3下列对人体消化道各部位排列顺序正确的是A.Stomach（胃），

Duodenum（十二指肠），Jejunum（空肠），Ileum（回肠），Colon（结肠）.

4.食物在人体消化道停留时间最长的部位是（Lower digestive tract （下消化道））

5.课程提及的Thaiss等人2012年在Cell发表的研究结果报道了肠道微生物会出现周期震荡变化（Diurnal Oscillations），文章通过实验揭示了控制肠道微生物周期震荡变化的因素是（A.喂食时间）

6.根据研究报道，影响肠道微生态的因素包括（A.抗生素 B.生活节律 C.年龄 D.饮食）

7.课程提及的Li等人和Yatsunenko等人的研究成果都显示不同国籍人群的肠道微生物在物种和功能组成上都会体现显著的差异，引起这些差异的因素可能包括（A.饮食习惯 B.人群特异遗传特征 C.人群所暴露的环境 D.抗生素使用的控制）

8.人肠道微生物组（microbiome）对人类健康生存提供了重要的功能，其中包括（A.消化功能 B.代谢功能 C.驱赶病原菌 D.分解毒素 E.重要的氨基酸合成 F.荷尔蒙合成 G.促进免疫系统成熟） 二、判断题

1.人体各部位的微生态环境中，共生微生物的功能（代谢通路）组成比物种组成更稳定。对

2.人体消化道个组成部位中，PH最低的部位是小肠。错

3.课程提及的Cho等人2012年在 Nature发表的研究结果表明对小鼠早年（early-life）进行抗生素干预，将改变其肠道微生物组成，并促进肥胖特征的出现。对

4.课程提及的Qin等人2012年在Nature发表的中国人糖尿病与肠道微生物关联研究中，提出的宏基因组关联分析方法（Metagenome-wide

association study）是基于肠道微生物基因组上的变异（SNP，indel）进行关联分析的。 错

5.人肠道微生物在个体发育过程中也会逐渐发生变化，不同小孩间的肠道微生物的差异（Interpersonal variation）比不同成年人间肠道微生物的差异大。对

6.人肠道微生物组（microbiome）能够为宿主提供维生素合成的功能。对 7.课程提及的Qin等人2012年在Nature发表的中国人糖尿病与肠道微生物关联研究中，发现丁酸盐生成（butyrate-producing）相关的细菌和功能通路在健康个体中富集。对 与遗传服务相关社会伦理问题

1. 生命伦理学原则中的“公正原则”不包含下面哪项( C) A.分配公正; B.程序公正; C.结果公正; D.回报公正 D.回报公正 2.生命伦理学原则中的尊重的原则不包括下面那一项( C)

A.自主性; B.知情同意; C.公开; C.公开; - 正确 D.隐私

3. 一研究小组收集DNA样本，研究疾病与基因的关系。在征求知情同意的过程中，样本提供者同意通过采血获取DNA样本，后来由于某种原因改为采集唾沫获取DNA.本案例中改变了采样方式，那么应该再获取新的知情同意吗( C)

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