(1) Background: Several studies have suggested that the vitamin D receptor (VDR) gene plays a role in type 2 diabetes mellitus (T2DM) susceptibility. Nonetheless, the association between T2DM and VDR polymorphisms remains inconclusive. We determined the genotype of VDR rs1544410 (BsmI) and rs2228570 (FokI) polymorphisms among Malaysian patients with T2DM and their association with glycemic control factors (vitamin D levels, calcium, magnesium, and phosphate). (2) Methods: A total of 189 participants comprising 126 patients with T2DM (63 with good glycemic control and 63 with poor glycemic control) and 63 healthy controls were enrolled in this case–control study. All biochemical assays were measured using spectrophotometric analysis. VDR gene FokI and BsmI polymorphisms were analyzed using polymerase chain reaction and endonuclease digestion. (3) Results: Our findings revealed no significant differences in VDR FokI and BsmI genotypes between participants with T2DM and healthy controls. Moreover, no significant association was observed between both single nucleotide polymorphisms and glycemic control factors. Participants with poor glycemic control had significantly lower serum magnesium levels and significantly higher HOMA-IR compared to the other groups. (4) Conclusions: The present study revealed that VDR gene BsmI and FokI polymorphisms were not significantly associated with T2DM.

Chronic lymphocytic leukaemia (CLL) is a haematological malignancy characterised by the accumulation of monoclonal mature B lymphocytes (positive for CD5+ and CD23+) in peripheral blood, bone marrow, and lymph nodes. Although CLL is reported to be rare in Asian countries compared to Western countries, the disease course is more aggressive in Asian countries than in their Western counterparts. It has been postulated that this is due to genetic variants between populations. Various cytogenomic methods, either of the traditional type (conventional cytogenetics or fluorescence in situ hybridisation (FISH)) or using more advanced technology such as DNA microarrays, next generation sequencing (NGS), or genome wide association studies (GWAS), were used to detect chromosomal aberrations in CLL. Up until now, conventional cytogenetic analysis remained the gold standard in diagnosing chromosomal abnormality in haematological malignancy including CLL, even though it is tedious and time-consuming. In concordance with technological advancement, DNA microarrays are gaining popularity among clinicians as they are faster and better able to accurately diagnose the presence of chromosomal abnormalities. However, every technology has challenges to overcome. In this review, CLL and its genetic abnormalities will be discussed, as well as the application of microarray technology as a diagnostic platform.

Sex chromosome aneuploidies are the most common chromosome abnormalities associated with infertility in adult men. 47, XYY syndrome also known as Jacob Syndrome (JS) is one sex chromosome aneuploidy. Majority of 47, XYY men show normal spermatogenesis while minority may have varying degrees of impairment in spermatogenesis. This case report discusses about a 32 year old Malay gentleman who was diagnosed to have azoospermia for which cytogenetic analysis revealed an abnormal mosaic 47,XYY/45,X karyotype pattern as the underlying genetic cause. Abnormal mosaic 47,XYY/45,X karyotype associated with infertility is extremely rare in human population and hence reported for its rarity.

Background: Inference of genetic ancestry is of great interest in many fields and one of the markers in these analyses is ancestry informative marker single nucleotide polymorphisms (AIMSNPs). The Malay population is an ethnic group located mainly in South East Asia and comprises the largest ethnicity in Malaysia. Objectives: To determine Malay ancestry, Yahya et al, 2017 selected 37,487 SNPs from the genotyping data collected by the Malaysian Node of the Human Variome Project and Singapore Genome Variation Project and referenced them against the data from the International HapMap Project Phase 3. The SNPs determined to be informative for ancestry were compiled into AIM-SNP panels, and from these a few SNPs were selected for optimization in preparation for single base extension reaction multiplexing. Methodology: The chosen AIMSNPs were optimized and validated on Malay and non-Malay populations. Genotyping was carried out on participants of self-reported Malay and non-Malay ancestry respectively and the data were compared for Malay and non-Malay population to investigate for significant differences in the genotype between Malay and non-Malay participants. Findings: The results showed great similarities between the Malay and non-Malay population, which may arise from many factors, and further optimization of more SNPs and genotyping is required to definitively conclude the validity of the AIM-SNP panels for Malay population Conclusion: Knowledge of ancestry is important to minimise spurious association. This pilot study gives a brief account of the optimization process and offers an insight into how this may be done in South East Asian populations.

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.