多項選擇題Challenges of Genetic testing of Inherited（遺傳性） retinal（視網(wǎng)膜的） dystrophy（營養(yǎng)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（進展） of condition can take several decades
D.Locus heterogeneity（位點差異性）


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1.單項選擇題In the following mutation screening strategies，which is the most effective and breadth-covered（覆蓋廣） in nowadays？（）

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

2.單項選擇題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（獲得）

3.單項選擇題Diseases due to mutations（突變） 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

4.單項選擇題Human genome consists of about：（）

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

5.單項選擇題下列哪項活動不是正確的遺傳咨詢行動：（）

A.獲得并解釋個人和家庭的病史、發(fā)育史與生育史
B.分析出遺傳方式以及遺傳疾病和先天缺陷的發(fā)生風險與再發(fā)生風險
C.解釋遺傳疾病的病因、病史、診斷與應對措施
D.為了優(yōu)生指示曾育過出生缺陷患兒的夫婦別再生育了
E.說明并解釋基因檢測結(jié)果與其它診斷依據(jù)。