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Articles 1 - 5 of 5
Full-Text Articles in Medical Genetics
Genotype-Phenotype Diversity Of Beta-Thalassemia In Malaysia: Treatment Options And Emerging Therapies, Maryanne Jin Ai Tan Maryanne
Genotype-Phenotype Diversity Of Beta-Thalassemia In Malaysia: Treatment Options And Emerging Therapies, Maryanne Jin Ai Tan Maryanne
Mary Anne Tan Jin Ai
The haemoglobinopathies and thalassemias represent the most common inherited monogenic disorders in the world1. Beta-thalassaemia major is an ongoing public health problem in Malaysia2. Prior to 2004, the country had no national policy for screening and registry for thalassemia. In the absence of a national audit, the true figure of the extent of thalassemia in the Malaysian population was largely presumptive from micro-mapping studies from various research workers in the country. The estimated carrier rate for beta-thalassemia in Malaysia is 3.5-4%. There were 4768 transfusion dependent thalassemia major patients as of May 2010 (Data from National Thalassemia Registry).
The Pattern And Frequency Of T(14;18) Translocation And Immunophenotype In Asian Follicular Lymphoma, Mary Anne Tan Jin Ai
The Pattern And Frequency Of T(14;18) Translocation And Immunophenotype In Asian Follicular Lymphoma, Mary Anne Tan Jin Ai
Mary Anne Tan Jin Ai
Aims: Follicular lymphoma is frequently associated with t(14;18)(q32;q21) translocation. This study was undertaken to determine the pattern of Bcl-2, CD10 and Bcl-6 expression in relation to t(14;18) translocation in follicular lymphoma from a cohort of a multi-ethnic Asian population. Methods and results: Sixty-two cases of follicular lymphoma were retrieved for immunohistochemistry, and t(14;18) translocation analysis by polymerase chain reaction and fluorescent in-situ hybridization techniques. Bcl-2 expression was present in 74% of the cases. CD10 expression was also relatively low (61%), with decreasing frequency of expression in high-grade tumours. Bcl-6 protein was expressed in most of the tumours (88%) regardless of …
Apolipoprotein E Genotyping In The Malay, Chinese And Indian Ethnic Groups In Malaysia - A Study On The Distribution Of The Different Apoe Alleles And Genotypes, Mary Anne Tan Jin Ai
Apolipoprotein E Genotyping In The Malay, Chinese And Indian Ethnic Groups In Malaysia - A Study On The Distribution Of The Different Apoe Alleles And Genotypes, Mary Anne Tan Jin Ai
Mary Anne Tan Jin Ai
Background: Apolipoprotein E (apoE) is encoded by a polymorphic gene located on chromosome 19. The three common apoE alleles are epsilon2, epsilon3 and epsilon4. We studied the frequencies of the apoE alleles and genotypes in the three ethnic groups-Malay, Chinese and Indian-in Malaysia using DNA amplification followed by agarose gel electrophoresis. Methods: EDTA blood was collected and DNA was extracted using proteinase K-SDS digestion and purified by phenol-chloroform extraction. The apoE gene sequence was amplified using the PCR and apoE genotyping was performed by restriction enzyme digestion with HhaI. Results: Genotyping of the apoE gene produces six genotypes-E2/E2, E2/E3, E3/E3, …
Population Genetic-Study Among The Orang-Asli (Semai-Senoi) Of Malaysia - Malayan Aborigines, Mary Anne Tan Jin Ai
Population Genetic-Study Among The Orang-Asli (Semai-Senoi) Of Malaysia - Malayan Aborigines, Mary Anne Tan Jin Ai
Mary Anne Tan Jin Ai
A population genetic study was undertaken to provide gene frequency data on the additional blood genetic markers in the Semai and to estimate the genetic relations between the Semai and their neighboring and linguistically related populations by genetic distance and principal components analyses. Altogether 10 poly morphic and 7 monomorphic blood genetic markers (plasma proteins and red cell enzymes) were studied in a group of 349 Senoi Semai from 11. aboriginal settlements (villages) in the Pahang State of western Malaysia, Both the red cell glucosed-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (PGD) loci reveal the presence of polymorphic frequencies of a …
Modulation Of Mhc Expression On Human Endothelial-Cells By Sera From Patients With Systemic Lupus-Erythematosus, Mary Anne Tan Jin Ai
Modulation Of Mhc Expression On Human Endothelial-Cells By Sera From Patients With Systemic Lupus-Erythematosus, Mary Anne Tan Jin Ai
Mary Anne Tan Jin Ai
Major histocompatibility complex (MHC) antigen expression on cells is a prerequisite for immune interaction with activated T-cells. This study examined the ability of sera from patients with systemic lupus erythematosus (SLE) to modulate MHC expression on vascular endothelial cells. SLE sera were able to selectively upregulate MHC class I antigen expression on cultured human umbilical venous endothelial (HUVE) cells, without concomitant induction of MHC class II antigen. The stimulation index (SI) for MHC class I expression produced by SLE sera (1.21 ± 0.23) was significantly higher than those for normal controls (1.01 ± 0.10) (P < 0.0001) and non-SLE patients (1.12 ± 0.14) (P < 0.05). Additionally, active SLE patients had higher mean SI than inactive patients (P < 0.001). Preincubation of SLE sera with Protein A-Sepharose beads conjugated with antibodies against tumor necrosis factor-α and interferon-α was able to significantly reduce their ability to upregulate class I MHC expression by HUVE cells, indicating that these cytokines were responsible for the modulatory effect. This could be an important mechanism for the immune-mediated vascular injury seen in SLE.