Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
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DOI：
10.1016/s0140-6736(00)02767-7
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发表时间：
2000-09
期刊：
影响因子：
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通讯作者：
H. Saito;A. Sekizawa;T. Morimoto;Makoto Suzuki;T. Yanaihara
中科院分区：
文献类型：
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作者：
H. Saito;A. Sekizawa;T. Morimoto;Makoto Suzuki;T. Yanaihara
软骨发育不全是一种由单一基因点突变引起的短肢疾病。产前诊断这种疾病需要使用侵入性程序，如子宫穿刺术。然而，使用PCR和限制性片段长度多态性分析，我们能够检测到突变的血浆中的妇女携带胎儿怀疑有软骨发育不全。因此，从母体血浆中检测胎儿来源的突变基因可能允许对单基因疾病进行非侵入性产前诊断。
Achondroplasia is a short-limb disorder caused by a point mutation in a single gene. To diagnose such a disorder prenatally requires the use of invasive procedures such as amniocentesis. However, using PCR and restriction fragment length polymorphism analysis, we were able to detect the mutation in the plasma of a woman carrying a fetus suspected of having achondroplasia. The detection of a fetus-derived mutant gene from maternal plasma may therefore permit non-invasive prenatal diagnosis of single-gene disorders.