The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected. Seventy five percent of the patients were Chinese-Malaysians and showed the commonly occurring anomalies: 1. frameshift codon 41 and 42 (-TCTT); 2. the C to T substitution at position 654 of intron 2 (IVS-2); 3. the mutation at position -28(A to G); and the nonsense mutation A to T at codon 17. In the Malays, the common mutations seen were: 1. the G to C mutation at position 5 of IVS-1; 2. the G to T mutation at position 1 of intron 1 (IVS-1); and the A to T at codon 17. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta-thalassaemia to be instituted.
Inflammatory myofibroblastic tumour is rare but more common in children. It shows an immunophenotypic features of myofibroblastic differentiation, hence bearing neoplastic potential. The diagnosis is challenging especially if it involves rectum. Surgical resection is the mainstay of treatment if clinically obstructed. A 65-year-old gentleman presented with intestinal obstruction, which then followed by a hartmann's procedure. Final diagnosis is a rare case of inflammatory myofibroblastic tumour of the rectum. We discuss its genetic involvement with a literature review.
Haemoglobin Bart's hydrops fetalis is the result of complete absence of functional alpha-globin genes where the fetus is homozygous for the alpha 0-thal gene. Prenatal diagnosis can be made by analysis of fetal DNA from chorionic villus, amniotic cells and fetal blood. Earlier studies for analysing genomic DNA needed digestion with restriction enzymes and hybridisation to radiolabelled probes which took 2 weeks. We have used the polymerase chain reaction (PCR) and non-radioactive primers to identify specific target sequences with results available within 1-3 days for the diagnosis of haemoglobin Bart's syndrome. With fetal blood samples, complete absence of alpha-chain synthesis is confirmed by globin chain electrophoresis on cellulose acetate pH 6.0.
Undoped ZnO, Gd-doped ZnO with various doping concentration (1, 3, 5, and 7 at%), and 3 at% (Gd, Al) co-doped ZnO films were prepared on a glass substrate using the co-reactive sputtering method. The influence of the doping and co-doping process on the films was characterized using X-ray diffraction, FESEM, EDX, MFM, VSM, UV-VIS spectroscopy, and the Hall Effect measurement at room temperature. XRD study confirmed that the Gd and Al ions are incorporated into a ZnO lattice. EDX analysis confirmed the existence of Zn, O, Al, and Gd elements in the prepared Gd-doped ZnO and (Gd, Al) co-doped ZnO films, which suggests the successful doping procedure. All the deposited films obtained maximum optical transmittance above 80%, showing a high transparency of the films in the visible region. The optical band gap was found red-shifted from 3.11 to 3.21 eV with the increase in Gd doping concentration. The increase in band gap energy from 3.14 eV to 3.16 eV was obtained for 3 at% Gd and 3 at% (Gd, Al) co-doped ZnO films. The MFM measurement proved the existence of room-temperature ferromagnetism and spin polarization in Gd and (Gd, Al) co-doped ZnO films. By co-doping with Al, the result obtained from MFM shows the enhancement of magnetic properties, as it exhibited a smaller domain size with a shorter magnetic correlation length L, a larger phase shift Φrms, and the highest value of δfrms compared to the sample with 3 at% Gd incorporated into ZnO. The carrier concentration and electrical conductivity increased with the increase in Gd concentration, whereas the electrical resistivity and hall mobility showed a reverse trend. The similar trend of results obtained for 3 at% (Gd, Al) co-doped ZnO as compared to 3 at% Gd-doped ZnO also indicates greater electrical properties after a shallow donor such as aluminum was incorporated into Gd-doped ZnO thin films. In conclusion, for future applications, one should consider the possible influence of other types of shallow donor incorporation in an attempt to enhance the properties of new types of diluted magnetic semiconductors (DMSs).