Displaying publications 4581 - 4600 of 8213 in total

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  1. Fulltext Complete genome sequence of the thermophilic bacterium Geobacillus thermoleovorans CCB_US3_UF5
    Muhd Sakaff MK, Abdul Rahman AY, Saito JA, Hou S, Alam M
    J Bacteriol, 2012 Mar;194(5):1239.
    PMID: 22328744 DOI: 10.1128/JB.06580-11
    Geobacillus thermoleovorans CCB_US3_UF5 is a thermophilic bacterium isolated from a hot spring in Malaysia. Here, we report the complete genome of G. thermoleovorans CCB_US3_UF5, which shows high similarity to the genome of Geobacillus kaustophilus HTA 426 in terms of synteny and orthologous genes.
    Matched MeSH terms: DNA, Bacterial/genetics*; Geobacillus/genetics*
  2. Fulltext Genome sequence of Methylobacterium sp. strain GXF4, a xylem-associated bacterium isolated from Vitis vinifera L. grapevine
    Gan HM, Chew TH, Hudson AO, Savka MA
    J Bacteriol, 2012 Sep;194(18):5157-8.
    PMID: 22933776 DOI: 10.1128/JB.01201-12
    Methylobacterium sp. strain GXF4 is an isolate from grapevine. Here we present the sequence, assembly, and annotation of its genome, which may shed light on its role as a grapevine xylem inhabitant. To our knowledge, this is the first genome announcement of a plant xylem-associated strain of the genus Methylobacterium.
    Matched MeSH terms: DNA, Bacterial/genetics*; Methylobacterium/genetics*
  3. Fulltext Genome sequence of Ralstonia sp. strain PBA, a bacterium involved in the biodegradation of 4-aminobenzenesulfonate
    Gan HM, Chew TH, Tay YL, Lye SF, Yahya A
    J Bacteriol, 2012 Sep;194(18):5139-40.
    PMID: 22933765 DOI: 10.1128/JB.01165-12
    Ralstonia sp. strain PBA was isolated from textile wastewater in a coculture with Hydrogenophaga sp. strain PBC. Here we present the assembly and annotation of its genome, which may provide further insights into the mechanism of its interaction with strain PBC during 4-aminobenzenesulfonate degradation.
    Matched MeSH terms: DNA, Bacterial/genetics*; Ralstonia/genetics*
  4. Fulltext Insights from the genome sequence of a Salmonella enterica serovar Typhi strain associated with a sporadic case of typhoid fever in Malaysia
    Yap KP, Teh CS, Baddam R, Chai LC, Kumar N, Avasthi TS, et al.
    J Bacteriol, 2012 Sep;194(18):5124-5.
    PMID: 22933756 DOI: 10.1128/JB.01062-12
    Salmonella enterica serovar Typhi is the causative agent of typhoid fever, which causes nearly 21.7 million illnesses and 217,000 deaths globally. Herein, we describe the whole-genome sequence of the Salmonella Typhi strain ST0208, isolated from a sporadic case of typhoid fever in Kuala Lumpur, Malaysia. The whole-genome sequence and comparative genomics allow an in-depth understanding of the genetic diversity, and its link to pathogenicity and evolutionary dynamics, of this highly clonal pathogen that is endemic to Malaysia.
    Matched MeSH terms: DNA, Bacterial/genetics*; Salmonella typhi/genetics*
  5. Fulltext Genomic Analysis of Mycobacterium massiliense strain M115, an isolate from human sputum
    Ngeow YF, Wong YL, Lokanathan N, Wong GJ, Ong CS, Ng KP, et al.
    J Bacteriol, 2012 Sep;194(17):4786.
    PMID: 22887681 DOI: 10.1128/JB.01104-12
    We report the draft genome sequence of a clinical isolate, strain M115, identified as Mycobacterium massiliense, a member of the newly created taxon of Mycobacterium abscessus subspecies bolletii comb. nov.
    Matched MeSH terms: DNA, Bacterial/genetics; Nontuberculous Mycobacteria/genetics*
  6. Fulltext Genome sequence of Hydrogenophaga sp. strain PBC, a 4-aminobenzenesulfonate-degrading bacterium
    Gan HM, Chew TH, Tay YL, Lye SF, Yahya A
    J Bacteriol, 2012 Sep;194(17):4759-60.
    PMID: 22887664 DOI: 10.1128/JB.00990-12
    Hydrogenophaga sp. strain PBC is an effective degrader of 4-aminobenzenesulfonate isolated from textile wastewater. Here we present the assembly and annotation of its genome, which may provide further insights into its metabolic potential. This is the first announcement of the draft genome sequence of a strain from the genus Hydrogenophaga.
    Matched MeSH terms: DNA, Bacterial/genetics; Comamonadaceae/genetics*
  7. Fulltext Complete genome sequence of the thermophilic bacterium Thermus sp. strain CCB_US3_UF1
    Teh BS, Abdul Rahman AY, Saito JA, Hou S, Alam M
    J Bacteriol, 2012 Mar;194(5):1240.
    PMID: 22328745 DOI: 10.1128/JB.06589-11
    Thermus sp. strain CCB_US3_UF1, a thermophilic bacterium, has been isolated from a hot spring in Malaysia. Here, we present the complete genome sequence of Thermus sp. CCB_US3_UF1.
    Matched MeSH terms: DNA, Bacterial/genetics*; Thermus/genetics*
  8. Fulltext Large-scale 3D chromatin reconstruction from chromosomal contacts
    Zhang Y, Liu W, Lin Y, Ng YK, Li S
    BMC Genomics, 2019 Apr 04;20(Suppl 2):186.
    PMID: 30967119 DOI: 10.1186/s12864-019-5470-2
    BACKGROUND: Recent advances in genome analysis have established that chromatin has preferred 3D conformations, which bring distant loci into contact. Identifying these contacts is important for us to understand possible interactions between these loci. This has motivated the creation of the Hi-C technology, which detects long-range chromosomal interactions. Distance geometry-based algorithms, such as ChromSDE and ShRec3D, have been able to utilize Hi-C data to infer 3D chromosomal structures. However, these algorithms, being matrix-based, are space- and time-consuming on very large datasets. A human genome of 100 kilobase resolution would involve ∼30,000 loci, requiring gigabytes just in storing the matrices.

    RESULTS: We propose a succinct representation of the distance matrices which tremendously reduces the space requirement. We give a complete solution, called SuperRec, for the inference of chromosomal structures from Hi-C data, through iterative solving the large-scale weighted multidimensional scaling problem.

    CONCLUSIONS: SuperRec runs faster than earlier systems without compromising on result accuracy. The SuperRec package can be obtained from http://www.cs.cityu.edu.hk/~shuaicli/SuperRec .

    Matched MeSH terms: Chromatin/genetics; Chromosomes, Human/genetics
  9. BomMDH1 regulates malate-mediated oxidative stress in tobacco BY-2 suspension cells
    Chen H, Cao S, Chen J, Wang H, Wei Y, Chen Y, et al.
    J Plant Physiol, 2024 Sep;300:154297.
    PMID: 38945071 DOI: 10.1016/j.jplph.2024.154297
    Programmed cell death (PCD) is a genetically regulated process of cell suicide essential for plant development. The 'malate valve' is a mechanism that ensures redox balance across different subcellular compartments. In broccoli, the BomMDH1 gene encodes malate dehydrogenase in mitochondria, a critical enzyme in the 'malate circulation' pathway. This study investigates the functional role of BomMDH1 in malate (MA)-induced apoptosis in bright yellow-2 (BY-2) suspension cells. Findings revealed that transgenic cells overexpressing BomMDH1 showed enhanced viability under MA-induced oxidative stress compared to wild-type (WT) cells. Overexpression of BomMDH1 also reduced levels of reactive oxygen species (ROS), hydrogen peroxide (H2O2), and malondialdehyde (MDA), while increasing the expression of antioxidant enzyme genes such as NtAPX, NtAOX1a, NtSOD, and NtMDHAR. Additionally, treatment with salicylhydroxamic acid (SHAM), a characteristic inhibitor of mitochondrial respiration, further improved the anti-apoptotic activity of BY-2 cells. Overall, these results highlighted the function of the BomMDH1 gene and the potential of SHAM treatment in mitigating oxidative stress in BY-2 suspension cells.
    Matched MeSH terms: Malate Dehydrogenase/genetics; Plant Proteins/genetics
  10. Self-assembled silver nanoparticle-DNA on a dielectrode microdevice for determination of gynecologic tumors
    Li Z, Gopinath SCB, Lakshmipriya T, Anbu P, Perumal V, Wang X
    Biomed Microdevices, 2020 Sep 17;22(4):67.
    PMID: 32940771 DOI: 10.1007/s10544-020-00522-3
    Nanoscale materials have been employed in the past 2 decades in applications such as biosensing, therapeutics and medical diagnostics due to their beneficial optoelectronic properties. In recent years, silver nanoparticles (AgNPs) have gained attention due to their higher plasmon excitation efficiency than gold nanoparticles, as proved by sharper and stronger plasmon resonance peaks. The current work is focused on utilizing self-assembled DNA-AgNPs on microdevices for the detection of gynecological cancers. Human papilloma virus (HPV) mostly spreads through sexual transmittance and can cause various gynecological cancers, including cervical, ovarian and endometrial cancers. In particular, oncogene E7 from the HPV strain 16 (HPV-16 E7) is responsible for causing these cancers. In this research, the target sequence of HPV-16 E7 was detected by an AgNP-conjugated capture probe on a dielectrode sensor. The detection limit was in the range between 10 and 100 aM (by 3σ estimation). The sensitivity of the AgNP-conjugated probe was 10 aM and similar to the sensitivity of gold nanoparticle conjugation sensors, and the mismatched control DNA failed to detect the target, proving selective HPV detection. Morphological assessments on the AgNPs and the sensing surfaces by high-resolution microscopy revealed the surface arrangement. This sensing platform can be expanded to develop sensors for the detection various clinically relevant targets.
    Matched MeSH terms: Papillomavirus E7 Proteins/genetics; Human papillomavirus 16/genetics
  11. Intravaginally CpG-ODN and Salmonella enteritidis on TLR21, cytokines, and AvBD10 gene expressions in the reproductive tract of native chicken
    Suryohastari RRB, Sumarsono SH, Giri-Rachman EA, Edi SP
    Trop Biomed, 2024 Jun 01;41(2):142-148.
    PMID: 39154265 DOI: 10.47665/tb.41.2.002
    Salmonella enterica subsp. enterica serovar Enteritidis (SE) is a global concern for the poultry industry due to its association with foodborne illnesses. The transmission occurs through the transovarial route which initiates from colonization in oviducts and ascending to ovaries. Though there are studies on cytosine-phosphate-guanine oligodeoxynucleotide (CpG-ODN) and the increase of innate immune response, there is limited research on the intravaginal treatment using CpG-ODN. Previous studies have shown that stimulating CpG-ODN can induce the production of antimicrobial peptide avian beta-defensins (AvBDs) in vaginal cell cultures, there is limited information on the use of intravaginal treatment to induce the innate immune system, particularly in the Kampung Unggul Balitbangtan (KUB-1) chickens (Gallus gallus domesticus). This study investigates the impact of intravaginal CpG-ODN stimulation on the innate immune response in KUB-1 chicken ovaries and oviducts when challenged to SE. A total of 39 KUB-1 chickens were divided into four groups namely T1 (treated with CpG-ODN, n=12), T2 (SE group, n=12), T3 (CpG-ODN and SE, n=12), and Control (without CpG-ODN and SE, n=3). Chickens were observed from day 1 to 4 post-intravaginal (PI) inoculation. The results suggest that intravaginal CpG-ODN treatment modulates AvBD10 production through toll-like receptor (TLR)21, with interleukin (IL)1B and IL10 playing reciprocal roles, providing insights into the potential of this treatment to prevent transovarial Salmonellosis in poultry. The novelty of this study adds valuable insights to the current body of knowledge.
    Matched MeSH terms: beta-Defensins/genetics; Toll-Like Receptors/genetics
  12. Fulltext Detection of east/central/south African genotype of chikungunya virus in Myanmar, 2010
    Tun MM, Thant KZ, Inoue S, Nabeshima T, Aoki K, Kyaw AK, et al.
    Emerg Infect Dis, 2014 Aug;20(8):1378-81.
    PMID: 25062511 DOI: 10.3201/eid2008.131431
    In 2010, chikungunya virus of the East Central South African genotype was isolated from 4 children in Myanmyar who had dengue-like symptoms. Phylogenetic analysis of the E1 gene revealed that the isolates were closely related to isolates from China, Thailand, and Malaysia that harbor the A226V mutation in this gene.
    Matched MeSH terms: Chikungunya virus/genetics*; Viral Proteins/genetics
  13. Fulltext Strong and widespread cycloheximide resistance in Stichococcus-like eukaryotic algal taxa
    Syuhada NH, Merican F, Zaki S, Broady PA, Convey P, Muangmai N
    Sci Rep, 2022 Jan 20;12(1):1080.
    PMID: 35058560 DOI: 10.1038/s41598-022-05116-y
    This study was initiated following the serendipitous discovery of a unialgal culture of a Stichococcus-like green alga (Chlorophyta) newly isolated from soil collected on Signy Island (maritime Antarctica) in growth medium supplemented with 100 µg/mL cycloheximide (CHX, a widely used antibiotic active against most eukaryotes). In order to test the generality of CHX resistance in taxa originally identified as members of Stichococcus (the detailed taxonomic relationships within this group of algae have been updated since our study took place), six strains were studied: two strains isolated from recent substrate collections from Signy Island (maritime Antarctica) ("Antarctica" 1 and "Antarctica" 2), one isolated from this island about 50 years ago ("Antarctica" 3) and single Arctic ("Arctic"), temperate ("Temperate") and tropical ("Tropical") strains. The sensitivity of each strain towards CHX was compared by determining the minimum inhibitory concentration (MIC), and growth rate and lag time when exposed to different CHX concentrations. All strains except "Temperate" were highly resistant to CHX (MIC > 1000 µg/mL), while "Temperate" was resistant to 62.5 µg/mL (a concentration still considerably greater than any previously reported for algae). All highly resistant strains showed no significant differences in growth rate between control and treatment (1000 µg/mL CHX) conditions. Morphological examination suggested that four strains were consistent with the description of the species Stichococcus bacillaris while the remaining two conformed to S. mirabilis. However, based on sequence analyses and the recently available phylogeny, only one strain, "Temperate", was confirmed to be S. bacillaris, while "Tropical" represents the newly erected genus Tetratostichococcus, "Antarctica 1" Tritostichococcus, and "Antarctica 2", "Antarctica 3" and "Arctic" Deuterostichococcus. Both phylogenetic and CHX sensitivity analyses suggest that CHX resistance is potentially widespread within this group of algae.
    Matched MeSH terms: Chlorophyta/genetics*; Drug Resistance/genetics
  14. CYP2A6 polymorphisms in Malays, Chinese and Indians
    Nurfadhlina M, Foong K, Teh LK, Tan SC, Mohd Zaki S, Ismail R
    Xenobiotica, 2006 Aug;36(8):684-92.
    PMID: 16891249
    The genetically polymorphic cytochrome P450 (CYP) 2A6 is the major nicotine-oxidase in humans that may contribute to nicotine dependence and cancer susceptibility. The authors investigated the types and frequencies of CYP2A6 alleles in the three major ethnic groups in Malaysia and CYP2A6*1A, CYP2A6*1B, CYP2A6*1x2, CYP2A6*2, CYP2A6*3, CYP2A6*4, CYP2A6*5, CYP2A6*7, CYP2A6*8 and CYP2A6*10 were determined by allele-specific polymerase chain reaction (PCR) in 270 Malays, 172 Chinese and 174 Indians. Except for CYP2A6*2 and *3 that were not detected in the Malays and Chinese, all the other alleles were detected. Frequencies for the CYP2A6*4 allele were 7, 5 and 2%, respectively, in Malays, Chinese and Indians. A statistically significant high frequency of the duplicated CYP2A6*1x2 allele occurred among Chinese. Among Malays and Chinese, the most common allele was CYP2A6*1B, but it was CYP2A6*1A among Indians. These ethnic difference in frequencies suggested that further studies are required to investigate the implications on diseases such as cancer and smoking behaviour among these major ethnic groups in Malaysia.
    Matched MeSH terms: Cytochrome P-450 Enzyme System/genetics*; Smoking/genetics
  15. Effects of HSV-G47Δ Oncolytic Virus on Telomerase and Telomere Length Alterations in Glioblastoma Multiforme Cancer Stem Cells Under Hypoxia and Normoxia Conditions
    Vazifehmand R, Ali DS, Homaie FM, Jalalvand FM, Othman Z, Deming C, et al.
    Curr Cancer Drug Targets, 2024;24(12):1262-1274.
    PMID: 38357955 DOI: 10.2174/0115680096274769240115165344
    BACKGROUND: Due to the existence of tumor stem cells with tumorigenicity properties and resistance patterns, treatment of glioblastoma is not easy. Hypoxia is a major concern in glioblastoma therapy. Telomerase activity and telomere length alterations have been known to play a critical role in glioblastoma progression and invasion.

    OBJECTIVE: This study aimed to investigate the effects of HSV-G47Δ oncolytic virus on telomerase and telomere length alterations in U251GBMCSCs (U251-Glioblastoma cancer stem cells) under hypoxia and normoxia conditions.

    METHODS: U251-CSCs were exposed to the HSV-G47Δ virus in optimized MOI (Multiplicity of infection= 1/14 hours). An absolute telomere length and gene expression of telomerase subunits were determined using an absolute human telomere length quantification PCR assay. Furthermore, a bioinformatics pathway analysis was carried out to evaluate physical and genetic interactions between dysregulated genes with other potential genes and pathways.

    RESULTS: Data revealed that U251CSCs had longer telomeres when exposed to HSV-G47Δ in normoxic conditions but had significantly shorter telomeres in hypoxic conditions. Furthermore, hTERC, DKC1, and TEP1 genes were significantly dysregulated in hypoxic and normoxic microenvironments. The analysis revealed that the expression of TERF2 was significantly reduced in both microenvironments, and two critical genes from the MRN complex, MER11 and RAD50, were significantly upregulated in normoxic conditions. RAD50 showed a significant downregulation pattern in the hypoxic niche. Our results suggested that repair complex in the telomeric structure could be targeted by HSV-G47Δ in both microenvironments.

    CONCLUSION: In the glioblastoma treatment strategy, telomerase and telomere complex could be potential targets for HSV-G47Δ in both microenvironments.

    Matched MeSH terms: Brain Neoplasms/genetics; Telomere/genetics
  16. Fulltext Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
    Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, et al.
    J Clin Oncol, 2022 May 10;40(14):1529-1541.
    PMID: 35077220 DOI: 10.1200/JCO.21.02112
    PURPOSE: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.

    METHODS: We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.

    RESULTS: BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers.

    CONCLUSION: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.

    Matched MeSH terms: BRCA1 Protein/genetics; BRCA2 Protein/genetics
  17. Fulltext Novel insight into the genetic diversity of strongylid nematodes infecting South-East and East Asian primates
    Mason B, Cervena B, Frias L, Goossens B, Hasegawa H, Keuk K, et al.
    Parasitology, 2024 Apr;151(5):514-522.
    PMID: 38629119 DOI: 10.1017/S0031182024000386
    With many non-human primates (NHPs) showing continued population decline, there is an ongoing need to better understand their ecology and conservation threats. One such threat is the risk of disease, with various bacterial, viral and parasitic infections previously reported to have damaging consequences for NHP hosts. Strongylid nematodes are one of the most commonly reported parasitic infections in NHPs. Current knowledge of NHP strongylid infections is restricted by their typical occurrence as mixed infections of multiple genera, which are indistinguishable through traditional microscopic approaches. Here, modern metagenomics approaches were applied for insight into the genetic diversity of strongylid infections in South-East and East Asian NHPs. We hypothesized that strongylid nematodes occur in mixed communities of multiple taxa, dominated by Oesophagostomum, matching previous findings using single-specimen genetics. Utilizing the Illumina MiSeq platform, ITS-2 strongylid metabarcoding was applied to 90 samples from various wild NHPs occurring in Malaysian Borneo and Japan. A clear dominance of Oesophagostomum aculeatum was found, with almost all sequences assigned to this species. This study suggests that strongylid communities of Asian NHPs may be less species-rich than those in African NHPs, where multi-genera communities are reported. Such knowledge contributes baseline data, assisting with ongoing monitoring of health threats to NHPs.
    Matched MeSH terms: Oesophagostomum/genetics; Strongylida/genetics
  18. Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia
    George E, Li HJ, Fei YJ, Reese AL, Baysal E, Cepreganova B, et al.
    Hemoglobin, 1992;16(1-2):51-66.
    PMID: 1634362
    We have identified the beta-thalassemia mutations in 59 patients with thalassemia major and 47 patients with Hb E-beta-thalassemia, and the deletional and nondeletional alpha-thalassemia determinants in 23 out of 24 patients with Hb H disease. All persons were attending the Haematology Clinic at the National University of Malaysia in Kuala Lumpur (Malaysia). Most patients (76) were of Malay descent, while 52 patients were Chinese, and two came from elsewhere. The most frequently occurring beta-thalassemia alleles among the Malay patients were IVS-I-5 (G----C) and G----A at codon 26 (Hb E), while a few others were present at lower frequencies. The Chinese patients carried the mutation characteristic for Chinese [mainly codons 41/42 (-TTCT) and IVS-II-654 (C----T)]; Malay mutations were not observed among Chinese and Chinese mutations were virtually absent in the Malay patients. The large group of patients with Hb E-beta-thalassemia and different beta-thalassemia alleles offered the opportunity of comparing hematological data; information obtained for patients with Hb E-beta-thalassemia living in other countries was included in this comparison. Twenty-three patients with Hb H disease carried the Southeast Asian (SEA) alpha-thalassemia-1 deletion; 13 had the alpha CS alpha (Constant Spring) nondeletional alpha-thalassemia-2 determinant, while the deletional alpha-thalassemia-2 (-3.7 or -4.2 kb) was present in 10 subjects. The --/alpha CS alpha condition appeared to be the most severe with higher Hb H values. Both deletional and nondeletional types of alpha-thalassemia-2 were seen among Malay and Chinese patients.
    Matched MeSH terms: Mutation/genetics; Thalassemia/genetics*
  19. The thalassemia repository
    Kutler A, Lanclos KD
    Hemoglobin, 1987;11(1):93-109.
    PMID: 3583769
    Matched MeSH terms: Globins/genetics; Thalassemia/genetics*
  20. Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant
    Hsu CH, Langdown J, Lynn R, Fisher C, Rose A, Proven M, et al.
    Hemoglobin, 2018 May;42(3):199-202.
    PMID: 30328734 DOI: 10.1080/03630269.2018.1513849
    We report a novel hemoglobin (Hb) variant with a β chain amino acid substitution at codon 78 (CTG>CCG) (HBB: c.236T>C), detected through prenatal screening via capillary electrophoresis (CE) in an otherwise healthy and asymptomatic 38-year-old female of Southeast Asian ancestry. The variant, named Hb Penang after the proband's Malaysian city of origin, underwent further characterization through high performance liquid chromatography (HPLC), reversed phase HPLC, Sanger sequencing, isopropanol stability testing and isoelectric focusing (IEF).
    Matched MeSH terms: Hemoglobins, Abnormal/genetics*; beta-Globins/genetics*
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