Prenatal diagnosis for beta-thalassemia by PCR from single chorionic villus.
Abstract
Abstract
Abstract The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the…
Abstract The prevalence of multiple sclerosis (MS) was studied in the Greek-speaking population in the southwestern district of Paphos and the eastern Famagusta area and in the Troodos mountains in…
Abstract The application of the amplification refractory mutation system (ARMS) to the detection of individual beta-thalassaemia mutations in heterozygous parents and "at risk" fetuses has been assessed in Indian and…
Abstract Preventive genetics services based on population screening are now an integral part of maternal and child health programmes. New developments in DNA technology, ultrasound scanning, and assay of factors…
Abstract The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the…
Abstract Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We…
Abstract
Abstract
Abstract Through the procedure of gene amplification combined with hybridization to synthetic 19 base pair (bp) oligonucleotide probes, it has been possible to identify nine different mutations in the DNA…