Spinocerebellar Ataxia Type 2 with Focal Epilepsy - An Unusual Association

Annals of the Academy of Medicine Singapore331103-106AAMS

First successful preimplantation genetic diagnosis in Singapore - Avoidance of β-thalassaemia major

Annals of the Academy of Medicine Singapore388720-72

Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy

10.3389/fgene.2019.01105Frontiers in Genetics10110

Hemoglobin H disease classification by isoelectric focusing: Molecular verification of 110 cases from Thailand

10.1373/clinchem.2004.044396Clinical Chemistry513641-644CLCH

Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles

Annals of the Academy of Medicine Singapore3810910-91

Estimation of Tissue Distribution of mRNA Transcripts for Desaturase and Elongase Enzymes in Channa striata (Bloch, 1793) Fingerlings using PCR Technique

Fish species are varied in their capacity to biosynthesize n-3 highlyunsaturated fatty acids (HUFA) such as eicosapentaenoic and docosahexaenoic acids (EPA & DHA) that are crucial to the health and well-being of all higher vertebrates. Experts report that HUFA metabolism involves enzyme-mediated fatty acyl desaturation (FAD) and elongation (FAE) processes. In previous studies, different workers cloned, characterized, identified and reported several genes for FAD and FAE enzymes in different fish species such as Atlantic salmon, gilthead seabream, rainbow trout and zebrafish, and also demonstrated the up- and down-regulation in the activity of these enzymes in response to fluctuations in dietary HUFA. In this paper, we report on the expression of genes (mRNA transcripts) for FAD and FAE enzymes in different tissues of Channa striata (Bloch, 1793) fingerling, to evaluate the tissues of the fish in which activity of both enzymes are high. To achieve this objective, we used conventional polymerase chain reaction (PCR) technique to isolate and quantify the absolute copy number for each gene transcripts from 8 different tissues of the fish (reared with a commercial feed). Our estimate show that the distribution of the 2 enzyme transcripts were significantly (P < 0.05) higher in the liver and brain of C. striata than detected in the 6 other tissues evaluated (muscle, ovary, testis, intestine, kidney and skin). Subsequently, we discuss here extensively, the implication of this observation with respect to the use of vegetable oils (VO) as substitute to fish oil (FO) in diets for freshwater fish species

Clinical report: A case of Williams syndrome and Klinefelter syndrome

Annals of the Academy of Medicine Singapore3512901-904AAMS

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping

10.1038/s41598-019-52769-3Scientific Reports911648