Medical Genetics Commons^™

Assessing The Responses Of Mirna-200b And Mirna-429 In Cyanide Poisoning Cases, Pagparpat Varrathyarom, Nattachai Thangsiriskul, Wikanda Worrapitirungsi, Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Kornkiat Vongpaisarnsin

Chulalongkorn Medical Journal

Introduction: Cyanide toxicity disrupts cellular respiration by inhibiting mitochondrial cytochrome oxidase a3, resulting in cellular hypoxia. The cellular response to hypoxia is mediated by hypoxia-inducible factors (HIFs) and associated microRNAs (hypoxamiRs). Among these, miR-429 and miR-200b have been implicated in HIF regulation and are reported to be upregulated during acute hypoxic conditions. However, their specific roles in cyanide-induced hypoxia remain poorly understood. This study aimed to evaluate the expression of miR-429 and miR-200b in postmortem peripheral blood from cyanide poisoning cases. Methods: Postmortem blood was obtained from five cyanide poisoning cases and five non-asphyxial controls (PMI < 24 h). Total RNA was extracted, and 10 ng was used for cDNA synthesis with MultiScribe™ Reverse Transcriptase. Expression of miR-429 and miR-200b was quantified using TaqMan™ MicroRNA Assays on a QuantStudio™ 5 system. Relative expression was calculated by the 2^−ΔΔCT method and compared using the Mann–Whitney U test. One cyanide case was excluded due to low RNA quality. Results: Toxicological screening confirmed …

Impact Of The Rs1050757 C>T Variant In The 3'Utr Of The G6pd Gene On Mrna Structure And Mirna Binding In G6pd Deficiency: A Nanopore Minion Sequencing Study, Lawrence Billy Vasco Djama, Vorthon Sawaswong Ph.D., Prangwalai Chanchaem, Punchalee Mungkalasut Ph.D., Thanaporn Pimpakan, Poonlarp Cheepsunthorn Ph.D., Sunchai Payungporn Ph.D., Chalisa L. Cheepsunthorn Ph.D.

Chulalongkorn Medical Journal

Background: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder caused by impaired enzyme function or instability due to mutations in the G6PD gene, resulting in reduced enzyme activity. This study aimed to investigate mutations in the regulatory regions of the G6PD gene using Nanopore MinION sequencing to explore the potential impact of non-coding variants on G6PD activity.

Methods: Blood samples from 19 males (13 adults, 6 neonates) with G6PD deficiency or intermediate enzyme activity but unidentified coding sequence mutations were analysed. Genomic DNA was amplified using degenerate oligonucleotide-primed PCR (DOP-PCR) and sequenced with the Oxford Nanopore MinION platform. Bioinformatic …

Incidence Of Cytogenetic Abnormalities Detected By Fish Analysis In Multiple Myeloma Cases: A Seven-Year Study From A Cytogenetic Laboratory In King Chulalongkorn Memorial Hospital, Thailand (2018–2024), Montakarn Tansatit, Nutcharee Jongpornchai, Suwannee Songchart, Kittipornpan Krajokpap, Hudadini Da-Oh

Chulalongkorn Medical Journal

Background: Multiple myeloma (MM) is a genetically heterogeneous plasma cell malignancy with cytogenetic abnormalities influencing prognosis and treatment outcomes. Fluorescence in situ hybridization (FISH) is crucial for detecting clinically significant abnormalities, including IGH translocations and deletions (e.g., del(17p)), particularly in non-dividing plasma cells. However, cost and accessibility challenges limit comprehensive testing in resource-constrained settings like Thailand. Objectives: To investigate the incidence of cytogenetic abnormalities detected by FISH in MM cases over seven years in a Thai population, highlighting regional trends and barriers to comprehensive testing. Methods: A retrospective analysis was conducted on 360 bone marrow samples from MM patients between …

Identification Of Genetic And Antigenic Variation And Evolution Pattern Among Influenza A And B Viruses In Thailand, Nungruthai Suntronwong

Chulalongkorn University Theses and Dissertations (Chula ETD)

Seasonal influenza viruses commonly cause respiratory disease and have a considerable impact on public health threats which annually estimates 3 to 5 million cases of severe illness worldwide. The triggering of the seasonal influenza epidemic results from a complex interplay between viral, host and external factors such as climate. Although vaccination is an effective tool for influenza prevention and its complications, the composition of vaccine strain has been changed every year due to influenza constantly evolving. Here, we aim to examine the association between influenza activity and local climate factors, host immunity, genetic and antigenic variation and evolution pattern among …

Genetic Diversity Of Merozoite Surface Protein 1 Gene Of Plasmodium Falciparum In Thailand, May Myat Thu

Chulalongkorn University Theses and Dissertations (Chula ETD)

In 2030, World health organization's target is to eliminate malaria at least in 35 countries. At present, Thailand is low risk of malaria so that, it has the potential to eliminate. About 10 years ago, malaria prevalence was high along the country border areas. To prevent the recurrence in those areas, evaluation of drug susceptibility of parasites and vaccine are important. Therefore, basic knowledge on genetic diversity in malaria parasite is needed. Merozoite surface protein 1(msp1), one of the vaccine candidate genes, is useful for monitoring genetic diversity of the parasite and the potential gene of vaccine. However, high diversity …