title: Direct carrier detection and prenatal diagnosis of Sicilian and Spanish (delta beta)zero-thalassemias.
abstract: We describe a direct method for detection of the Spanish and Sicilian (delta beta)zero-thalassemias. This method is based on the use of the deletion-junction sequences to design specific PCR primers. It permits a rapid screening of heterozygotes in populations at risk and provides a useful tool for early prenatal diagnosis of these forms of thalassemia.
authors.affiliation: Laboratoire de Génétique Moléculaire, INSERM U91, Hôpital Henri Mondor, Créteil, France.
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: F
authors.initials: F
authors.lastname: Plassa
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: M
authors.initials: M
authors.lastname: Goossens
mesh_terms: D001483:Base Sequence; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D012802:Sicily / Q000208:ethnology; D013030:Spain / Q000208:ethnology; D017086:beta-Thalassemia / Q000145:classification / Q000175:diagnosis / Q000196:embryology / Q000235:genetics / Q000517:prevention & control*
chemical_list: D015345:Oligonucleotide Probes; D005914:Globins