Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells

作者: Yuet Wai Kan , AndréeM Dozy

DOI: 10.1016/S0140-6736(78)91629-X

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摘要: The polymorphism of a restriction endonuclease site has been used for antenatal diagnosis sickle-cell disease. In normal person, the beta-globin gene was contained in Hpa I-digested D.N.A. fragment 7.6 kilobases (kb) length. family where sickle variant 13.0 kb fragment, mapping diagnosis. from amniotic-fluid cells produced both and bk fragments, indicating trait. This confirmed reached after investigation 100% sample fetal blood. method is sensitive can be performed with obtained 15 ml uncultured amniotic fluid. approach may prove useful other genetic disorders.

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