多项选择题

Challenges of Genetic testing of Inherited（遗传性） retinal（视网膜的） dystrophy（营养不良） include：（）

A.The clinical diagnosis may or may not be specific
B.The inheritance mode is not clear for the isolated cases
C.The progression（进展） of condition can take several decades
D.Locus heterogeneity（位点差异性）

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热门试题

单项选择题In the following mutation screening strategies，which is the most effective and breadth-covered（覆盖广） in nowadays？（）

A.Chromosome banding
B.FISH
C.Mass spectrometry（MS）
D.Next Generation Sequencing（NGS-二代测序）

单项选择题Which statement about essential elements（要素） 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 testresult
C.Clinicians should have collection of data on phenotype and genotype
D.Essential elements of genetic testing are easy to be acquired（获得）

单项选择题Diseases due to mutations（突变） in different classes of proteins function for：（）

A.Structure of cells and organs
B.Developmental gene expression
C.Transport and storage
D.Control of growth and differentiation
E.All above

单项选择题Human genome consists of about：（）

A.100，000genes
B.80，000genes
C.20，000genes
D.15，000genes

单项选择题下列哪项活动不是正确的遗传咨询行动：（）

A.获得并解释个人和家庭的病史、发育史与生育史
B.分析出遗传方式以及遗传疾病和先天缺陷的发生风险与再发生风险
C.解释遗传疾病的病因、病史、诊断与应对措施
D.为了优生指示曾育过出生缺陷患儿的夫妇别再生育了
E.说明并解释基因检测结果与其它诊断依据。