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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
BRCA1/2基因是哪種類型的基因:()
視網(wǎng)膜色素變性的已知致病基因按照基因功能分,可以大致分為5類,除了光傳導(dǎo)、視網(wǎng)膜代謝、細(xì)胞結(jié)構(gòu)外,還包括:()
Leigh綜合征確診的金標(biāo)準(zhǔn)為:()
視網(wǎng)膜色素變性的臨床診斷標(biāo)準(zhǔn)包括:視錐細(xì)胞功能受損;光感受器功能進(jìn)行性受損;周邊視野進(jìn)行性喪失。
Leigh綜合征是一種線粒體疾病,是由線粒體基因組突變導(dǎo)致氧化磷酸化功能障礙引起的。
Leigh綜合征的病理改變?yōu)楹>d狀變性、壞死、脫髓鞘、膠質(zhì)增生和纖維狀增生。
視網(wǎng)膜色素變性目前已知的致病基因約有()個,散發(fā)病人占所有視網(wǎng)膜色素變性病人的比例為()。
核基因組突變的致病機(jī)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。
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。