Article
[Prenatal diagnosis of thalassemia: identification of mutations in conjunction with gene amplification in vitro].
Harefuah - 15 Jan 1991
Rund D, Filon D, Granat M, Hemo Y, Cohen T, Oppenheim A, Rachmilewitz A E
Abstract excerpt
Prenatal diagnosis of thalassemia and sickle cell anemia using DNA analysis has been performed in Israel since 1982. Until recently the tests involved analysis of polymorphic markers linked to the beta-globulin gene (RFLP). This method is not suitable for many of the families at risk. The recently developed technique of gene amplification in vitro (PCR) facilitates direct identification of the genetic lesions...
Topics
- Female
- Fetal Diseases
- Humans
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Thalassemia