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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
最新試題
線粒體基因組中致Leigh綜合征突變最常見的基因是:()
以下哪一個屬于烈性突變:()
視網(wǎng)膜中包括兩種感光細(xì)胞,分別是:()
苯丙酮尿癥血液和尿液中增高的是()
BRCA1/2基因是哪種類型的基因:()
核基因組突變的致病機制可以為:()
遺傳性腫瘤基因檢測不包括基因組結(jié)構(gòu)變異。
針對苯丙酮尿癥的新生兒篩查一般只要在1歲前都可以進(jìn)行,不會有太大影響。
安吉麗娜•朱莉家族所攜帶的遺傳性乳腺癌基因:()
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。