Displaying publications 101 - 120 of 455 in total

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  1. Ooi LC, Low ET, Abdullah MO, Nookiah R, Ting NC, Nagappan J, et al.
    Front Plant Sci, 2016;7:771.
    PMID: 27446094 DOI: 10.3389/fpls.2016.00771
    Oil palm (Elaeis guineensis) is the most productive oil bearing crop worldwide. It has three fruit forms, namely dura (thick-shelled), pisifera (shell-less) and tenera (thin-shelled), which are controlled by the SHELL gene. The fruit forms exhibit monogenic co-dominant inheritance, where tenera is a hybrid obtained by crossing maternal dura and paternal pisifera palms. Commercial palm oil production is based on planting thin-shelled tenera palms, which typically yield 30% more oil than dura palms, while pisifera palms are female-sterile and have little to no palm oil yield. It is clear that tenera hybrids produce more oil than either parent due to single gene heterosis. The unintentional planting of dura or pisifera palms reduces overall yield and impacts land utilization that would otherwise be devoted to more productive tenera palms. Here, we identify three additional novel mutant alleles of the SHELL gene, which encode a type II MADS-box transcription factor, and determine oil yield via control of shell fruit form phenotype in a manner similar to two previously identified mutant SHELL alleles. Assays encompassing all five mutations account for all dura and pisifera palms analyzed. By assaying for these variants in 10,224 mature palms or seedlings, we report the first large scale accurate genotype-based determination of the fruit forms in independent oil palm planting sites and in the nurseries that supply them throughout Malaysia. The measured non-tenera contamination rate (10.9% overall on a weighted average basis) underscores the importance of SHELL genetic testing of seedlings prior to planting in production fields. By eliminating non-tenera contamination, comprehensive SHELL genetic testing can improve sustainability by increasing yield on existing planted lands. In addition, economic modeling demonstrates that SHELL gene testing will confer substantial annual economic gains to the oil palm industry, to Malaysian gross national income and to Malaysian government tax receipts.
    Matched MeSH terms: Alleles
  2. Muhammadazril Mohd Saad, Nur Amin Abd Rahman, Khairani Idah Mokhtar, Noraini Abu Bakar, Azrul Fazwan Kharuddin, Wan Rohani Wan Taib
    MyJurnal
    Polymorphism in PAX9 (rs8004560), a gene responsible for craniofacial and tooth development, is often associated with Class II/Div2 malocclusion. This study aimed to detect the presence of PAX9 SNP (rs8004560) and to determine its genotype and allele distribution in Class II skeletal base malocclusion, contributed by retrognathic mandible, in the local Malaysian population. The association of PAX9 SNP (rs8004560) with Class II skeletal base malocclusion was also determined. A case control study was performed on 30 samples; 15 from Class II skeletal base malocclusion, and 15 from Class I skeletal base subject as control. Cephalometric measurements were performed prior to saliva samples collection. Genomic DNA was extracted from unstimulated saliva of all subjects, and the DNA was amplified using specific primers for marker rs8004560, followed by genotyping by sequencing. SHEsis online software was used to analyse Hardy-Weinberg Equilibrium (HWE) for cases and controls. Allelic and genotypic frequencies were compared between cases and controls. Significant difference in allele frequency was observed within the group whereby G allele was over-represented in the analysed population (p0.05). Although no genetic association between PAX9 SNP (rs8004560) with Class II skeletal base malocclusion was observed, significant difference in allele frequency observed might provide some indication in the involvement of PAX9 polymorphism in Class II skeletal base malocclusion contributed by retrognathic mandible. Further research utilising larger sample size will be required in order to determine the role of PAX9 gene in the aetiology of Class II skeletal base malocclusion observed in the local Malaysian population.
    Matched MeSH terms: Alleles
  3. Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, et al.
    EMBO Mol Med, 2020 11 06;12(11):e12619.
    PMID: 32969598 DOI: 10.15252/emmm.202012619
    Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two unrelated families who presented with Leigh syndrome due to homozygous variants (c.346_*7del and c.173A>T p.His58Leu) in NDUFC2, encoding a complex I subunit. Biochemical and functional investigation of subjects' fibroblasts confirmed a severe defect in complex I activity, subunit expression and assembly. Lentiviral transduction of subjects' fibroblasts with wild-type NDUFC2 cDNA increased complex I assembly supporting the association of the identified NDUFC2 variants with mitochondrial pathology. Complexome profiling confirmed a loss of NDUFC2 and defective complex I assembly, revealing aberrant assembly intermediates suggestive of stalled biogenesis of the complex I holoenzyme and indicating a crucial role for NDUFC2 in the assembly of the membrane arm of complex I, particularly the ND2 module.
    Matched MeSH terms: Alleles
  4. Cho L, Kaur A, Cereb N, Lin PY, Yang KL
    HLA, 2020 09;96(3):344-345.
    PMID: 32212215 DOI: 10.1111/tan.13879
    One nucleotide substitution in codon 112 of HLA-B*15:349:01 results in a novel allele, HLA-B*15:349:02.
    Matched MeSH terms: Alleles
  5. Cho L, Kaur A, Cereb N, Lin PY, Yang KL
    HLA, 2020 08;96(2):243-244.
    PMID: 32250029 DOI: 10.1111/tan.13889
    One nucleotide substitution in codon 38 of HLA-DQB1*06:01:01:01 results in a novel allele, HLA-DQB1*06:132.
    Matched MeSH terms: Alleles
  6. Cho L, Kaur A, Cereb N, Lin PY, Yang KL
    HLA, 2020 08;96(2):240-241.
    PMID: 32246584 DOI: 10.1111/tan.13887
    Nucleotide substitutions in codon 38 of HLA-DQB1*05:03:01:01 result in a novel allele, HLA-DQB1*05:66:01.
    Matched MeSH terms: Alleles
  7. Cho L, Kaur A, Cereb N, Lin PY, Yang KL
    HLA, 2020 08;96(2):217-218.
    PMID: 32227685 DOI: 10.1111/tan.13873
    One nucleotide substitution in codon 89 of HLA-B*38:02:01:01 results in a novel allele, HLA-B*38:64.
    Matched MeSH terms: Alleles
  8. Kaur A, Cho L, Cereb N, Lin PY, Yang KL
    HLA, 2020 07;96(1):94-95.
    PMID: 32166893 DOI: 10.1111/tan.13862
    DNA substitutions from codons 69 to 71 of HLA-B*35:05:01:01 result in a novel allele, HLA-B*35:368.
    Matched MeSH terms: Alleles
  9. Tan LK, Too CL, Diaz-Gallo LM, Wahinuddin S, Lau IS, Heselynn H, et al.
    Arthritis Res Ther, 2021 01 30;23(1):46.
    PMID: 33514426 DOI: 10.1186/s13075-021-02431-z
    BACKGROUND: Fine-mapping of human leukocyte antigen (HLA) region for rheumatoid arthritis (RA) risk factors has identified several HLA alleles and its corresponding amino acid residues as independent signals (i.e., HLA-A, HLA-B, HLA-DPB1, and HLA-DQA1 genes), in addition to the well-established genetic factor in HLA-DRB1 gene. However, this was mainly performed in the Caucasian and East Asian populations, and data from different Asian regions is less represented. We aimed to evaluate whether there are independent RA risk variants in both anti-citrullinated protein antibody (ACPA)-positive and ACPA-negative RA patients from the multi-ethnic Malaysian population, using the fine-mapping of HLA region strategy.

    METHODS: We imputed the classical HLA alleles, amino acids, and haplotypes using the Immunochip genotyping data of 1260 RA cases (i.e., 530 Malays, 259 Chinese, 412 Indians, and 59 mixed ethnicities) and 1571 controls (i.e., 981 Malays, 205 Chinese, 297 Indians, and 87 mixed ethnicities) from the Malaysian Epidemiological Investigation of Rheumatoid Arthritis (MyEIRA) population-based case-control study. Stepwise logistic regression was performed to identify the independent genetic risk factors for RA within the HLA region.

    RESULTS: We confirmed that the HLA-DRB1 amino acid at position 11 with valine residue conferred the strongest risk effect for ACPA-positive RA (OR = 4.26, 95% CI = 3.30-5.49, PGWAS = 7.22 × 10-29) in the Malays. Our study also revealed that HLA-DRB1 amino acid at position 96 with histidine residue was negatively associated with the risk of developing ACPA-positive RA in the Indians (OR = 0.48, 95% CI = 0.37-0.62, PGWAS = 2.58 × 10-08). Interestingly, we observed that HLA-DQB1*03:02 allele was inversely related to the risk of developing ACPA-positive RA in the Malays (OR = 0.17, 95% CI = 0.09-0.30, PGWAS = 1.60 × 10-09). No association was observed between the HLA variants and risk of developing ACPA-negative RA in any of the three major ethnic groups in Malaysia.

    CONCLUSIONS: Our results demonstrate that the RA-associated genetic factors in the multi-ethnic Malaysian population are similar to those in the Caucasian population, despite significant differences in the genetic architecture of HLA region across populations. A novel and distinct independent association between the HLA-DQB1*03:02 allele and ACPA-positive RA was observed in the Malays. In common with the Caucasian population, there is little risk from HLA region for ACPA-negative RA.

    Matched MeSH terms: Alleles
  10. Khadijah S, Wahaf ANS, Syahmi MI, Tan TK, Low VL, Azrul LM, et al.
    Trop Biomed, 2018 Dec 01;35(4):999-1006.
    PMID: 33601847
    This paper reports total nematode anthelmintic resistance towards albendazole, fenbendazole, levamisole and ivermectin in a commercial sheep farm located in Terengganu, Malaysia. Faecal Egg Count Reduction Test (FECRT) was conducted on 25 sheep, where five sheep in each group were treated with the respective four anthelmintics based on live bodyweight. The balance of five sheep placed in the control group were not treated with any anthelmintics. At day 13 post-treatment, faecal egg count was conducted and nematode worm egg count reduction percentage was calculated to determine the resistance status towards the respective anthelmintics tested. Results showed that nematodes were resistant to all the anthelmintics tested, namely albendazole, fenbendazole, levamisole and ivermectin with reduction percentage of 87%, 46%, 94% and 68%, respectively. Subsequently, the third stage larvae of Haemonchus contortus and Trichostrongylus colubriformis recovered from post-treatment faecal cultures were subjected to allele-specific polymerase chain reaction (AS-PCR) assay to determine the presence of the benzimidazole resistance gene. This study reports the occurrence of the classical F200Y mutation in the isotype 1 βtubulin gene, for the first time in Malaysia.
    Matched MeSH terms: Alleles
  11. Sri Noraima Othman, Nor Adzimah Johdi, Zuraini Abd Razak, Luqman Mazlan, Ismail Sagap, Rahman Jamal
    MyJurnal
    Many studies have shown that the immune response highly depends on the inheritance of specific HLA
    genes in promoting the generation of T cells for the elimination of pathogens. Loss or alteration of HLA
    antigen expression in tumor cells has been observed in a variety of human malignancies leading to immune
    escape or immune resistance. We investigated whether the inheritance of certain alleles of HLA class II
    genes confers susceptibility or resistance towards the development of colorectal carcinoma (CRC).
    Molecular typing of HLA DRB1, DQB1 and DPB1 alleles in 42 patients diagnosed with CRC and 50
    ethnically matched healthy controls using the PCR-sequence based typing (PCR-SBT) was conducted. The
    HLA DPB1*02:01:02 was significantly higher in CRC patients (38.1%, p=0.0189) compared to healthy
    controls (16%). Also, HLA DQB1*05:02:01 was present in 28.6% of CRC patients but only 10% of healthy
    controls (p=0.0278). The odds ratios for HLA DPB1*02:01:02 and HLA DQB1*05:02:01were 3.23 and 3.60,
    respectively. There were no significant association observed for the DRB1 allele with CRC. Our study
    suggests that the HLA DPB1*02:01:02 and HLA DQB1*05:02:01 alleles may confer a higher risk for CRC
    Matched MeSH terms: Alleles
  12. Veeramuthu, Vigneswaran, Pancharatnam, Devaraj, Poovindran, Anada Raj, Nur Atikah Mustapha, Wong, Kum Thong, Mazlina Mazlan, et al.
    Neurology Asia, 2014;19(1):69-77.
    MyJurnal
    The complex pathophysiology of traumatic brain injury, its cascading effects and a varied outcome suggest that factors such as genetics may permeate and modulate the neurocognitive outcomes in patients with mild traumatic brain injury (mTBI). This study was conducted to determine the relationship between genetic polymorphism of apolipoprotein E, and neurocognitive and functional outcomes in mTBI. Twenty-one patients with mTBI were recruited prospectively. The severity of the injury was established with the Glasgow Coma Score (GCS). Other assessments included the CT Scan of the head on admission, Disability Rating Scale, Chessington Occupational Therapy Neurological Assessment (COTNAB) and Glasgow Outcome Scale (GOS). The Spearmen correlation analysis of ApoE allele status and the cognitive and functional assessments saw some association with the Sensory Motor Ability - Coordination (-0.526, p
    Matched MeSH terms: Alleles
  13. Yusof, R., Abdul Rahman, P.S., Rahim, Z.H.A.
    Ann Dent, 1999;6(1):-.
    MyJurnal
    The application of PCR technique in genetic screening was demonstrated using the genetic materials from buccal cells of the students in the class. Two factors were taken into consideration when designing the experiments. The DNA region to be amplified should not be associated with any disease state. This is to eliminate any emotional and ethical problems associated with the experiments. In this practical, the presence and absence of a 38 bp sequence in the intron of COLIA2 gene were studied. The students were also shown on how to analyse the presence of homozygous and heterozygous alleles and the genetic variations that might be observed in the different ethnic groups of students. Another factor was the time taken to complete the experiment. Our experience showed that this experiment would take at least six hours to obtain and analyse the results. It is therefore suitable to be used in class teaching.
    Matched MeSH terms: Alleles
  14. George, E., Teh, L.K., Rosli, R., Lai, M.I., Tan, J.A.M.A.
    MyJurnal
    Beta (β)- thalassaemia is a public health problem in Malaysia. The carrier rate is estimated to be 4.5% by micro-mapping studies particularly among Malays who comprise 53.5% of the population in Malaysia. The common diagnostic method in Malaysia for mutation detection is by amplification refractory mutation system (ARMS). It allows single mutation detection in each reaction but is labour intensive and time consuming when many mutations need to be identified. The purpose of this study was to develop a diagnostic tool for effective mutation detection of beta thalassaemia in Malay patients and compare its efficacy with ARMS-PCR, the current method in use. Methods: Reverse dot blot hybridization (RDBH) technique was incorporated in the development of two strip assays [RDBH-Strip M(6) and RDBH-Strip C(6)] to identify common beta thalassaemia mutations in the Malays. The panels of selected mutations were based on the mutation frequencies in Malaysia reported in previous studies. RDBH-Strip M(6) was applied as step 1 and RDBH-Strip C(6) was applied as step 2 for unidentified mutations. The strips were validated with the gold standard method, ARMS- PCR. Results: One hundred and thirty seven Malay patients with 274 alleles were studied. In Step 1 mutation detection, 238 alleles (86.9%) were identified in 119 of patients by RDBH-Strip M(6). Step 2 resulted in a further detection of 20 alleles in another 10 patients by RDBH-Strip C(6). The combination of both strips resulted in the identification of 258 alleles in 129 (94.6%) of 137 Malay patients. The strip assays were 100% sensitive and specific when compared with ARMS-PCR method. Conclusion: Two strip assays utilising the RDBH technique were developed to identify common β-thalassaemia mutations in Malays. The RDBH Strip M(6) identified 86.9% of the mutations and the RDBH-Strip C (6) detected further 7.3% alleles. This two step strategy was found to be rapid and cost effective for the direct diagnosis of β-thalassaemia mutations in the Malays. The remaining unidentified mutations would require DNA sequencing. It can serve as a specific molecular diagnostic tool for effective diagnosis of
    β-thalassaemia mutations in this ethnic group.
    Matched MeSH terms: Alleles
  15. Thong, M.K., Choy, Y.S., Rawi, R.M.
    MyJurnal
    Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on standing and the development of arthritis in adult life.' Subse-quently, Garrod encapsulated the idea of IEM in 1908 with the concept of 'chemical indivi-duality'. Beadle and Tatum proposed the concept of one gene - one enzyme in 1945.2 Phenyl-ketonuria (PKU) was described in 1934 and amongst the first to be recognised as a cause of mental handicap with a biochemical basis.' Effective treatment for PKU with low pheny-lalanine diet was introduced in 1955. Molecular characterisation of genetic defects localised to alleles in various chromosomes were performed in the last two decades
    Matched MeSH terms: Alleles
  16. Amy Hui-Ping Khor, Lim, Kheng-Seang, Tan, Chong-Tin, Seinn Mya Mya Aye, Yan Lynn Aung, Yin Minn Aye, et al.
    Neurology Asia, 2017;22(3):283-285.
    MyJurnal
    Genetic predisposition to carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and toxic
    epidermal necrolysis (TEN) had been reported in several Southeast Asian populations, but not in
    Myanmar. Previous studies had so far reported more than 70% of CBZ-induced SJS/TEN cases
    positive for HLA-B*15:02 allele.1-4 Myanmar, as the second largest country in Southeast Asia with a
    population of 54.5 million, has high HLA-B*15:02 carrier frequency in its general population (27.3-
    49.1%).5,6 We investigated the association of HLA-B alleles and CBZ-induced SJS/TEN in Myanmar
    population. HLA-B*15:02 was detected in 3/3 (100%) of cases and 6/53 (11.3%) of tolerant controls,
    and HLA-B*15:02 is significantly associated with CBZ-SJS/TEN in Myanmar population (OR 51.2,
    95% CI 2.36-1106.95, p=0.003). (Copied from article)
    Matched MeSH terms: Alleles
  17. Siti Nazirah Yahya, Nurul Syafiqah Abdul Razak, Noraini Abu Bakar, Khairani Idah Mokhtar, Azrul Fazwan Kharuddin
    MyJurnal
    Evidence suggests that several genes; including MYO1H, play an important role in the
    etiology of Class III malocclusion. Single nucleotide polymorphism (SNP) in marker rs10850110 (locus
    12q24.11) within MYO1H gene has been associated with the incidence of mandibular prognathism
    (MP). MYO is a class 1 myosin that is responsible for the synthesis of Matrilin-1; an important
    protein involved in the formation of cartilage's extracellular matrix, hence is implicated in the
    formation of mandibular condyle cartilage. This study aimed to detect the presence of MYO1H
    (rs10850110) SNP and to determine its genotype and allele distribution in MP patient in the local
    population. (Copied from article).
    Matched MeSH terms: Alleles
  18. Arora S, Ramachandra SS, Abdullah F, Gundavarapu KC
    Contemp Clin Dent, 2017 Jan-Mar;8(1):102-105.
    PMID: 28566859 DOI: 10.4103/ccd.ccd_1177_16
    INTRODUCTION: Single-nucleotide polymorphisms (SNPs) in interleukin 1β (IL-1β) gene have been known to be associated with increased susceptibility to chronic periodontitis among various ethnic populations. SNPs are more commonly observed at loci + 3954 and - 511. The aim of this study was to evaluate the role of IL-1β gene polymorphism at loci +3954 and - 511, and its association with severe chronic generalized periodontitis among the ethnic Malay, Chinese, and Indians within the Malaysian population.

    MATERIALS AND METHODS: Saliva samples from 120 subjects (60 cases and 60 controls) in the age group of 25-50 years were collected for isolation of genetic material using Norgen technique. Clinical attachment loss of ≥5 mm was considered as severe chronic generalized periodontitis. SNP's at loci +3954 and - 511 were identified and analyzed using Kompetitive Allele Specific Polymerase Chain Reaction Genotyping System (KASP™). Differences in the allele/genotype frequencies were assessed by Chi-square test (P < 0.05).

    RESULTS: On the comparison between cases and controls of IL-1β genotype polymorphism (+3954 and - 511), the difference in the genotype frequencies was statistically insignificant in all the three ethnicities. The genotype frequency in both groups in all three ethnicities of the Malaysian population was similar.

    CONCLUSION: IL-1β genotype polymorphism at +3954 and - 511 was found to be not associated with severe chronic generalized periodontitis among the three ethnicities in Malaysia. Studies with larger sample size should be done to confirm the findings of this study.
    Matched MeSH terms: Alleles
  19. Wan Rohani WT, Aryati A, Amiratul Athirah S
    Med J Malaysia, 2018 10;73(5):281-285.
    PMID: 30350805 MyJurnal
    INTRODUCTION: The prevalence of overweight and obesity has developed the critical global threat which leads to metabolic risks and mortality. A Leptin hormone that regulates the food intake as well as food expenditure is encoded by Leptin gene. The gene has shown a pivotal role in obesity pathogenesis. This study was sought to determine the SNPs and haplotype association of the Leptin gene that were assigned as G2548A, H1328080, and A19G with obesity among Malays in Terengganu, Malaysia.

    METHODOLOGY: This study comprised of 249 participants (148 overweight/ obese as a case group and 101 lean participants as controls). The PCR-RFLP technique was performed to distinguish the genotype distribution of Leptin gene polymorphisms. The allele and genotype frequencies were assessed for single and haplotype analyses.

    RESULT: Single association analysis of G2548A (P=0.74), A19G (P=0.38), and H1328080 (P=0.56) polymorphisms yielded no statistically significant association. However, haplotype association analysis showed a suggestive indication of AAG haplotype (G2548A, H1328080, and A19G sequence) with susceptibility effect towards obesity predisposition [P=0.002, OR=8.897 (1.59-9.78)].

    CONCLUSION: This data on single and haplotype might disclose the preliminary exposure and pave the way for the obesity development with an evidence of revealed susceptibility to obesity.

    Matched MeSH terms: Alleles
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