Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T
Lancet. 2000 Sep 30;356(9236):1170. doi: 10.1016/S0140-6736(00)02767-7.
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.
软骨发育不全是一种由单个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操作，如羊膜穿刺术。然而，通过聚合酶链反应（PCR）和限制性片段长度多态性分析，我们能够在一名怀有疑似软骨发育不全胎儿的孕妇血浆中检测到该突变。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。
