Article
Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation--prelude to preimplantation diagnosis.
Prenatal diagnosis - 1 Jan 1993
Monk M, Kenealy M R, Mohadjerani S
Abstract excerpt
As a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8-cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta-haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) amplification of a 680 base pair sequence of the beta-globin gene spanning the site of the sickle cell...
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