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 chai...
Topics
- Alleles
- Anemia, Sickle Cell
- Base Sequence
- Embryo, Mammalian
- Embryonic Development
- Evaluation Studies as Topic
- Female
- Genetic Testing
- Globins
- Humans
- Molecular Sequence Data
- Mouth Mucosa
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Quality Control