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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(jìn)展) of condition can take several decades
D.Locus heterogeneity(位點(diǎn)差異性)
A.Chromosome banding
B.FISH
C.Mass spectrometry(MS)
D.Next Generation Sequencing(NGS-二代測序)
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)
A.Structure of cells and organs
B.Developmental gene expression
C.Transport and storage
D.Control of growth and differentiation
E.All above
A.100,000genes
B.80,000genes
C.20,000genes
D.15,000genes
最新試題
視網(wǎng)膜色素變性的三個(gè)典型的臨床癥狀為:()
Leigh綜合征的病變集中區(qū):基底神經(jīng)節(jié)區(qū)、腦干、丘腦、小腦、脊髓,常常累及乳頭體。
苯丙酮尿癥為常染色體顯性遺傳,因缺乏苯丙氨酸羥化酶所致。
視網(wǎng)膜色素變性是一種視網(wǎng)膜感光細(xì)胞或色素上皮細(xì)胞(RPE)功能受損,從而導(dǎo)致視力進(jìn)行性缺失的一種視網(wǎng)膜變性疾病。
核基因組突變的致病機(jī)制可以為:()
以下哪項(xiàng)技術(shù)不可用于視網(wǎng)膜色素變性的分子診斷?()
BRCA1/2基因是哪種類型的基因:()
以下哪一個(gè)不是遺傳性腫瘤的特點(diǎn):()
視網(wǎng)膜中包括兩種感光細(xì)胞,分別是:()
經(jīng)典型苯丙酮尿癥的血漿苯丙氨酸(Phe)濃度>120umol/L。