1) prenatal molecular diagnosis
产前分子诊断
1.
Prenatal molecular diagnosis of 3 Chinese X-linked adrenoleukodystrophy pedigrees;
三个肾上腺脑白质营养不良家系的产前分子诊断
2.
Objective To report the prenatal molecular diagnosis for two gravida in a family with spondylepiphyseal dysplasia congenita(SEDC)caused by G504S mutation of COL2A1 gene.
目的对COL2A1基因(typeⅡcollagen gene)G504S突变导致的先天性脊柱骨骺发育不良(SEDC)家系的2例中期妊娠患者进行产前分子诊断。
2) prenatal diagnosis
产前分子诊断
1.
Objective To carry out prenatal diagnosis on two fetuses of different pedigrees with X-linked adrenoleukodystrophy(ALD).
目的对2名来自不同家系的肾上腺脑白质营养不良携带者所怀胎儿进行产前分子诊断。
3) prenatal diagnosis
产前诊断
1.
Preventive effect of prenatal diagnosis to birth defects in 9339 cases of living birth infants;
产前诊断对9339例围生儿出生缺陷干预的影响
2.
Deletion analysis and prenatal diagnosis of 32 patients with Duchenne muscular dytrophy;
Duchenne型肌营养不良症患者32例基因缺失分析及产前诊断
3.
The ethical problem in the prenatal diagnosis;
产前诊断的相关伦理学问题
4) Antenatal diagnosis
产前诊断
1.
Serological screening and antenatal diagnosis of patients with Down s syndrome in early pregnancy;
孕早期唐氏综合征的血清筛查和产前诊断研究
2.
Analysis of down s syndrome screening and antenatal diagnosis of 3195 cases in the middle period of pregnancy;
3195例孕中期唐氏综合征的血清筛查和产前诊断临床分析
3.
Antenatal diagnosis is a systemic project concerning many aspects.
产前诊断工作是一个涉及面广的系统工程。
5) Molecular Diagnosis
分子诊断
1.
Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system;
应用双侧扩增阻滞突变系统排除肾上腺脑白质营养不良分子诊断中假基因的干扰
2.
Molecular diagnosis of adrenoleukodystrophy;
肾上腺脑白质营养不良的分子诊断(附2例报告)
6) non-invasive prenatal diagnosis
无创性产前诊断
1.
The discovery of circulating fetal DNA paves a new way for non-invasive prenatal diagnosis.
孕妇外周血中胎儿游离DNA的发现,为无创性产前诊断开辟了一条新途径。
补充资料：DNA探针产前诊断
DNA探针产前诊断
1979年Riggs及Comings提出用某一段已知DNA作为探针，称为互补DNA，经放射标记后，与羊水细胞的DNA杂交，并用放射显影法得出结果，用来诊断胎儿的某些遗传性基因疾病。如已成功用于α-地中海贫血，血红蛋白—H等病。以后又有报告利用限制性内切酶切割点碱基系列用以诊断β-地中海贫血，苯丙酮尿等症。此法可在早期妊娠使用，与羊水细胞培养(见“产前诊断”)比较，可解决某些单用细胞培养不能表达的基因病，又能避免羊水细胞培养的母体细胞污染。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条