Displaying publications 121 - 140 of 992 in total

Abstract:
Sort:
  1. Fulltext Multiplex amplification refractory mutation system (MARMS) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia
    Hanafi S, Hassan R, Bahar R, Abdullah WZ, Johan MF, Rashid ND, et al.
    Am J Blood Res, 2014;4(1):33-40.
    PMID: 25232503
    The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.
    Matched MeSH terms: Mutation
  2. Fulltext Keloid scarring: understanding the genetic basis, advances, and prospects
    Halim AS, Emami A, Salahshourifar I, Kannan TP
    Arch Plast Surg, 2012 May;39(3):184-9.
    PMID: 22783524 DOI: 10.5999/aps.2012.39.3.184
    Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.
    Matched MeSH terms: Mutation
  3. Correlations of HBV genotypes, mutations affecting HBeAg expression and HBeAg/ anti-HBe status in HBV carriers
    Lim CK, Tan JT, Khoo JB, Ravichandran A, Low HM, Chan YC, et al.
    Int J Med Sci, 2006;3(1):14-20.
    PMID: 16421626
    This study was carried out to determine the effects of hepatitis B virus genotypes, core promoter mutations (A1762G1764-->T1762A1764) as well as precore stop codon mutations (TGG-->TAG) on HBeAg expression and HBeAg/ anti-HBe status. Study was also performed on the effects of codon 15 variants (C1858/ T1858) on the predisposition of precore stop codon mutations (TGG-->TAG). A total of 77 sera samples were analyzed. Fifty one samples were successfully genotyped of which the predominant genotype was genotype B (29/ 51, 56.9 %), followed by genotype C (16/ 51, 31.4 %). Co-infections by genotypes B and C were observed in four samples (7.8 %). To a lesser degree, genotypes D and E (2.0 % each) were also observed. For core promoter mutations, the prevalence was 68.8 % (53/ 77) for A1762G1764 wild-type and 14.3 % (11/ 77) for T1762A1764 mutant while 9.1 % (7/ 77) was co-infected by both strains. The prevalence of codon 15 variants was found to be 42.9 % (33/ 77) for T1858 variant and 16.9 % (13/ 77) for C1858 variant. No TAG mutation was found. In our study, no associations were found between genotypes (B and C) and core promoter mutations as well as codon 15 variants. Also no correlation was observed between HBeAg/ anti-HBe status with genotypes (B and C) and core promoter mutations.
    Matched MeSH terms: Mutation
  4. A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
    Khoo AS, Balraj P, Rachedi A, Chin CN, Volpi L
    Hum Mutat, 1999 Nov;14(5):448.
    PMID: 10533073
    Matched MeSH terms: Frameshift Mutation
  5. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
    McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, et al.
    Clin Genet, 2015 Dec;88(6):550-7.
    PMID: 25492405 DOI: 10.1111/cge.12550
    Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency <0.005) compound heterozygous variants of unknown significance in SRTD genes (specificity >99%). Costs for consumables, laboratory processing and bioinformatic analysis were
    Matched MeSH terms: Mutation
  6. Fulltext Functional diversity of biocatalysts: whether to bioprospect or bioengineer?
    Benbelgacem, Farah Fadwa, Bellag, Oualid Abdelkader, Soroodi, Fatemeh, Abdul Aziz Ahmad, Hamzah Mohd Salleh, Noorbatcha, Ibrahim Ali
    Biological and Natural Resources Engineering Journal, 2019;2(1):64-84.
    MyJurnal
    Biocatalyst should have sufficient and efficient activity for the intended
    biotechnological application. In the quest for novel biocatalyst, there is a need to have a
    genetic diversity either by finding it within the astronomically large number of possible
    candidates or to obtain it by bioengineering an existing gene supported by various
    bioinformatic and molecular engineering tools. Nowadays, it is well-known that a huge
    number of microorganisms is unculturable and poses great challenges to access biocatalysts
    from these microbes. Metagenomics is one of the methods widely applied to reach out
    maximum possible variants to “bioprospect” biocatalysts. On the other hand, other approaches
    are available to bioengineer enzymes by modifying the DNA sequence precisely based on the
    structure and the function information of the protein in the case of rational design, or by a
    brave creation of anarchic mutations of the DNA sequence with directed evolution method. In
    this regard, both approaches, whether to bioprospect or to bioengineer biocatalysts have
    advantages and disadvantages which will be discussed in this paper.KEY WORDS: Sugar
    industry wastewater; aluminium sulphate; primary treatment, ferric chloride; polyaluminium
    chloride
    Matched MeSH terms: Mutation
  7. Fulltext Malignant Transformation of a Rosette-Forming Glioneuronal Tumor with IDH1 Mutation: A Case Report and Literature Review
    Jayapalan RR, Mun KS, Wong KT, Sia SF
    World Neurosurg X, 2019 Apr;2:100006.
    PMID: 31218281 DOI: 10.1016/j.wnsx.2018.100006
    Background: Rosette-forming glioneuronal tumor (World Health Organization grade I) is considered as a benign tumor with very low potential for progression. The potential for malignant transformation of this tumor is not known and has never been reported before in literature.

    Case Description: We report a 42-year-old man, diagnosed with rosette-forming glioneuronal tumor of the fourth ventricle with a positive isocitrate dehydrogenase 1 mutation, progressed to glioblastoma after 6 years from diagnosis. We discuss the clinical history, radiological findings, and histopathological characteristic with immunohistochemistry findings observed in this unique case.

    Conclusions: Despite being acceptable as benign, based on our observations in this case, there is a potential for malignant transformation of rosette-forming glioneuronal tumor. The role of isocitrate dehydrogenase 1 mutation leading to malignant transformation could not be established as our finding is novel and further prospective studies are required to prove this association.

    Matched MeSH terms: Mutation
  8. Fulltext Phytochemical and In Vitro Genotoxicity Studies of Standardized Ficus deltoidea var. kunstleri Aqueous Extract
    Muhammad H, Omar MH, Rasid ENI, Suhaimi SN, Mohkiar FH, Siu LM, et al.
    Plants (Basel), 2021 Feb 11;10(2).
    PMID: 33670296 DOI: 10.3390/plants10020343
    The present study was carried out to assess the genotoxicity potential of Ficus deltoidea var. kunstleri aqueous extract (FDAE) using standard in vitro assays. The DNA damage of V79B cells was measured using the alkaline comet assay treated at 0.1 mg/mL (IC10) and 0.3 mg/mL (IC25) of FDAE together with positive and negative controls. For in vitro micronucleus assay, the V79B cells were treated with FDAE at five different concentrations (5, 2.5, 1.25, 0.625, and 0.3125 mg/mL) with and without S9 mixture. The bacteria reverse mutation assay of FDAE was performed on Salmonella typhimurium strains TA98, 100, 1535, 1537, and Escherichia coli strain WP2uvrA using pre-incubation method in the presence or in the absence of an extrinsic metabolic system (S9 mixture). FDAE at 0.1 and 0.3 mg/mL significantly increased DNA damage in both comet tail and tail moment (p < 0.05). No significant changes were detected in the number of micronucleated cell when compared to control. Tested at the doses up to 5000 µg/plate, the FDAE did not increase the number of revertant colonies for all strains. In conclusion, further investigation needs to be conducted in animal model to confirm the non-genotoxicity activities of FDAE.
    Matched MeSH terms: Mutation
  9. In silico mutation on a mutant lipase from Acinetobacter haemolyticus towards enhancing alkaline stability
    Anuar NFSK, Wahab RA, Huyop F, Halim KBA, Hamid AAA
    J Biomol Struct Dyn, 2020 Sep;38(15):4493-4507.
    PMID: 31630644 DOI: 10.1080/07391102.2019.1683074
    Alkaline-stable lipases are highly valuable biocatalysts that catalyze reactions under highly basic conditions. Herein, computational predictions of lipase from Acinetobacter haemolyticus and its mutant, Mut-LipKV1 was performed to identify functionally relevant mutations that enhance pH performance under increasing basicity. Mut-LipKV1 was constructed by in silico site directed mutagenesis of several outer loop acidic residues, aspartic acid (Asp) into basic ones, lysine (Lys) at positions 51, 122 and 247, followed by simulation under extreme pH conditions (pH 8.0-pH 12.0). The energy minimized Mut-LipKV1 model exhibited good quality as shown by PROCHECK, ERRAT and Verify3D data that corresponded to 79.2, 88.82 and 89.42% in comparison to 75.2, 86.15, and 95.19% in the wild-type. Electrostatic surface potentials and charge distributions of the Mut-LipKV1 model was more stable and better adapted to conditions of elevated pHs (pH 8.0 - 10.0). Mut-LipKV1 exhibited a mixture of neutral and positive surface charge distribution compared to the predominantly negative charge in the wild-type lipase at pH 8.0. Data of molecular dynamics simulations also supported the increased alkaline-stability of Mut-LipKV1, wherein the lipase was more stable at a higher pH 9.0 (RMSD = ∼0.3 nm, RMSF = ∼0.05-0.2 nm), over the optimal pH 8.0 of the wild-type lipase (RMSD = 0.3 nm, RMSF = 0.05-0.20 nm). Thus, the adaptive strategy of replacing surface aspartic acid to lysine in lipase was successful in yielding a more alkaline-stable Mut-LipKV1 under elevated basic conditions.Communicated by Ramaswamy H. Sarma.
    Matched MeSH terms: Mutation
  10. Fulltext A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies
    Yusoff AAM, Abdullah WSW, Khair SZNM, Radzak SMA
    Oncol Rev, 2019 Jan 14;13(1):409.
    PMID: 31044027 DOI: 10.4081/oncol.2019.409
    Mitochondria are cellular machines essential for energy production. The biogenesis of mitochondria is a highly complex and it depends on the coordination of the nuclear and mitochondrial genome. Mitochondrial DNA (mtDNA) mutations and deletions are suspected to be associated with carcinogenesis. The most described mtDNA deletion in various human cancers is called the 4977-bp common deletion (mDNA4977) and it has been explored since two decades. In spite of that, its implication in carcinogenesis still unknown and its predictive and prognostic impact remains controversial. This review article provides an overview of some of the cellular and molecular mechanisms underlying mDNA4977 formation and a detailed summary about mDNA4977 reported in various types of cancers. The current knowledges of mDNA4977 as a prognostic and predictive marker are also discussed.
    Matched MeSH terms: Mutation
  11. Fulltext A dual genetic alteration (mitochondrial and nuclear DNA): first case in Malaysia detected in glioblastoma multiforme
    Abdul Aziz Mohamed Yusoff, Wan Salihah Wan Abdullah, Alarmelu Nithya Ramanathan, Jafri Malin Abdullah, Zamzuri Idris
    Malaysian Journal of Medicine and Health Sciences, 2020;16(2):332-335.
    MyJurnal
    Although the precise etiology of Glioblastoma multiforme (GBM, WHO grade IV) remains unknown, its progression
    is believed to be driven by the accumulation of multiple genetic alterations. Here, we report a case of a patient who
    developed GBM, and associated with dual alterations, particularly 4977-bp deletion in mtDNA (mtDNA4977) and
    p.Arg132His (R132H) mutation in IDH1. A 35-year old Malaysian woman patient who primary diagnosed with astrocytoma WHO grade I and subsequently after four years developed a GBM, was detected with a mtDNA4977. This
    deletion appears to be a sporadic mutation. Additionally, analysis of patient’s tumor tissue also found to harbor a heterozygous IDH1 R132H mutation. This represents the first case report of coexisting mtDNA4977 together with IDH1
    R132H mutation in a Malaysian patient of GBM. The findings of dual alterations could be of therapeutic benefit if
    these alterations were justified to be contributing to GBM growth and aggressiveness.
    Matched MeSH terms: Mutation
  12. Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome
    Karmila AB, Yap YC, Appadurai M, Oh L, Fazarina M, Abd Ghani F, et al.
    Fetal Pediatr Pathol, 2021 Apr;40(2):113-120.
    PMID: 31707902 DOI: 10.1080/15513815.2019.1686788
    Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS).Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress.
    Matched MeSH terms: Mutation
  13. Fulltext Pathogenic mutations in ARX, CDKL5and STXBP1genes are not associated with the early-onset epileptic encephalopathy in Malaysian pediatricpatients: A pilot study
    Ameerah Jaafar, Feizel Alsiddiq, Ling, King-Hwa
    Neuroscience Research Notes, 2018;1(3):5-17.
    MyJurnal
    Gene mutation is one of the etiologies of early-onset epileptic encephalopathy (EOEE), an age-dependent seizure in infants, which leads to brain defects. Previous studies have shown that several genes namely, aristalessrelated homeobox (ARX), cyclindependent kinaselike 5 (CDKL5) and syntaxinbinding protein 1 (STXBP1) are responsible for the pathophysiology of the syndrome. Thestudy involved 20 EOEE patients and 60 control subjects, which aimed toinvestigatethe clinical association of Malaysian EOEE subjects with 13 known pathogenic mutations in the genes of interest. In addition, the entire ARX exonic region was also sequenced for known and novel mutations. PCR specificity and efficiency were optimized using conventional PCR and High Resolution Melting Analysis (HRMA). All cases and approximately 10% of control amplicon samples were purified and subjected to DNA sequencing. All known mutations reported previously were not found in control subjects and Malaysian EOEE patients with 100% confirmation by sequencing results. Sequencing of ARX exonic regionsof patient samplesdid not find any mutation in all exons. The preliminary study indicates that selected known pathogenic mutations of ARX, CDKL5and STXBP1are not associated with EOEE in Malaysian paediatric patients.
    Matched MeSH terms: Mutation
  14. Structural and kinetic studies of a novel nerol dehydrogenase from Persicaria minor, a nerol-specific enzyme for citral biosynthesis
    Tan CS, Hassan M, Mohamed Hussein ZA, Ismail I, Ho KL, Ng CL, et al.
    Plant Physiol Biochem, 2018 Feb;123:359-368.
    PMID: 29304481 DOI: 10.1016/j.plaphy.2017.12.033
    Geraniol degradation pathway has long been elucidated in microorganisms through bioconversion studies, yet weakly characterised in plants; enzyme with specific nerol-oxidising activity has not been reported. A novel cDNA encodes nerol dehydrogenase (PmNeDH) was isolated from Persicaria minor. The recombinant PmNeDH (rPmNeDH) is a homodimeric enzyme that belongs to MDR (medium-chain dehydrogenases/reductases) superfamily that catalyses the first oxidative step of geraniol degradation pathway in citral biosynthesis. Kinetic analysis revealed that rPmNeDH has a high specificity for allylic primary alcohols with backbone ≤10 carbons. rPmNeDH has ∼3 fold higher affinity towards nerol (cis-3,7-dimethyl-2,6-octadien-1-ol) than its trans-isomer, geraniol. To our knowledge, this is the first alcohol dehydrogenase with higher preference towards nerol, suggesting that nerol can be effective substrate for citral biosynthesis in P. minor. The rPmNeDH crystal structure (1.54 Å) showed high similarity with enzyme structures from MDR superfamily. Structure guided mutation was conducted to describe the relationships between substrate specificity and residue substitutions in the active site. Kinetics analyses of wild-type rPmNeDH and several active site mutants demonstrated that the substrate specificity of rPmNeDH can be altered by changing any selected active site residues (Asp280, Leu294 and Ala303). Interestingly, the L294F, A303F and A303G mutants were able to revamp the substrate preference towards geraniol. Furthermore, mutant that exhibited a broader substrate range was also obtained. This study demonstrates that P. minor may have evolved to contain enzyme that optimally recognise cis-configured nerol as substrate. rPmNeDH structure provides new insights into the substrate specificity and active site plasticity in MDR superfamily.
    Matched MeSH terms: Mutation, Missense
  15. The brave new world of genetic testing in the management of the dyslipidaemias
    Nawawi HM, Chua YA, Watts GF
    Curr Opin Cardiol, 2020 05;35(3):226-233.
    PMID: 32097179 DOI: 10.1097/HCO.0000000000000721
    PURPOSE OF REVIEW: With the exception of familial hypercholesterolaemia, the value of genetic testing for managing dyslipidaemias is not established. We review the genetics of major dyslipidaemias in context of clinical practice.

    RECENT FINDINGS: Genetic testing for familial hypercholesterolaemia is valuable to enhance diagnostic precision, cascade testing, risk prediction and the use of new medications. Hypertriglyceridaemia may be caused by rare recessive monogenic, or by polygenic, gene variants; genetic testing may be useful in the former, for which antisense therapy targeting apoC-III has been approved. Familial high-density lipoprotein deficiency is caused by specific genetic mutations, but there is no effective therapy. Familial combined hyperlipidaemia (FCHL) is caused by polygenic variants for which there is no specific gene testing panel. Familial dysbetalipoproteinaemia is less frequent and commonly caused by APOE ε2ε2 homozygosity; as with FCHL, it is responsive to lifestyle modifications and statins or/and fibrates. Elevated lipoprotein(a) is a quantitative genetic trait whose value in risk prediction over-rides genetic testing; treatment relies on RNA therapeutics.

    SUMMARY: Genetic testing is not at present commonly available for managing dyslipidaemias. Rapidly advancing technology may presage wider use, but its worth will require demonstration of cost-effectiveness and a healthcare workforce trained in genomic medicine.

    Matched MeSH terms: Mutation
  16. Fulltext Thanatophoric Dysplasia: Case Report
    Roszaman Ramli, Ahmad Murad Zainudin
    International Medical Journal Malaysia, 2006;5(2):1-6.
    MyJurnal
    Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the most common lethal human skletal dysplasia characterized by severe dwarfism. It occurs in 3 to 4 per 100,000 live births1 and is due to autosomal dominant sporadic de novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene3 which codes for the FGFR3 transmembrane receptor expressed largely by skeletal and brain tissues in the developing fetus where it is involved with growth regulation. The FGFR3 mutation in TD leads to generalized defects and lack of endochondral ossification, with membranous ossification being less impaired1. Male and female fetuses are equally affected. Two thanatophoric case of this extremely rare occurance are reported and discussed.
    Matched MeSH terms: Mutation
  17. Fulltext Studies on the effectiveness of acute gamma and ion beam irradiation in generating flower colour mutation for chrysanthemum morifolium
    Shakinah Salleh, Affrida Abu Hassan, Shuhaimi Shamsudin, Yahya Awang, Ab. Kahar Sandrang, Abdullah, Thohirah Lee
    Jurnal Sains Nuklear Malaysia, 2012;24(2):59-70.
    MyJurnal
    Chrysanthemum morfolium is an important temperate cut flower and potted plant for Malaysian local market and exporter. Considering chrysanthemum as a popular vegetatively propagated ornamental plant, induce mutations for breeding purposes are more beneficial. Several of physical mutagens have been used in mutation breeding including x-rays, gamma rays and ion beams. Gamma rays and ion beams are from two different linear energy transfer (LET) which are low and high, respectively. The objective of this study was to compare the effectiveness of acute gamma and ion beam irradiation in generating flower colour mutations on nodal explants of Chrysanthemum morifblium cv. Reagan Red'. The nodal explants were irradiated with acute gamma (0, 10, 20, 30, 40, 50, 60, 70, 80, 90, 100, 110 and 120 Gy) and ion beam (0, 0.5, 1.0, 2.0, 3.0, 5.0, 8.0, 10, 15, 20 and 30 Gy). The optimal dose for in vitro shoot regeneration using acute gamma was in the range of 10 to .15.0Gy and for ion beam was between 3.5 to 4.OGv. Relative biological effectiveness for ion beam was found 3.75 higher than the acute gamma. The regenerated plantlets were planted in the greenhouse at MARDI, Cameron Highland for morphological screening. The highest frequency of flower colour mutation for acute gamma was 77.8% whilst for ion beam were between 42.3 to 58.3%.
    Matched MeSH terms: Mutation
  18. Fulltext Gamma irradiation effects on oil palm (elaies guinensis jacq.) pollen viability, fruits and bunch formations
    Aida Nazlyn Nazari, Azhar Mohamad, Shuhaimi Shamsudin
    Jurnal Sains Nuklear Malaysia, 2014;26(2):1-8.
    MyJurnal
    Assessing performance and genetic diversity of the wild material of oil palm is important for
    under- standing genetic structure of natural oil palm populations towards improvement of the
    crops. This in-formation is important for oil palm breeding programs, and also for continued exsitu
    conservation of the germplasm and breeding program in Malaysia. Mutation induction is one
    of the approaches in creating variants for selection in the breeding program. In this study, the
    effect of irradiated pollen towards pollen viability, bunches formation and number of
    parthenocarpic fruits were evaluated. Elaies guineensis Jacq. pollens were exposed to series of
    acute gamma radiation at dose 0, 10, 20, 40, 50, 100, 200, 300, 500, 100 and 2000 Gy . Pollen
    viability and pollen tube formation were disrupted in which unable the pollen to reach the ovule.
    At this stage, embryo was aborted towards formation of parthenocarpic fruits and rotten bunches.
    The study suggested that at low levels of irradiation i.e. < 200 Gy, generative nucleus partially
    damage and it is still maintaining capacity of fertilizing the egg cells for hybridization. It is
    important for breeders in understanding this finding towards novel variants of oil palm via
    mutation induction
    Matched MeSH terms: Mutation
  19. Fulltext Distribution of disease and pest resistance markers in malaysian rice varieties
    W. Wilonita, R. Nurliyana, D.D. Asma, M. Noorazizah, M.Y. Hirzun
    ASM Science Journal, 2013;7(2):105-112.
    MyJurnal
    Molecular markers have been intensively used in assisting breeding to reduce the time taken by conventional breeding as well as helping introgression of specific traits. Baseline analysis of known markers is crucial in developing a genetic database on disease and pest resistance for local rice germplasm which does not yet
    exist. In this study seven local rice varieties, including the popular MR219 and MRQ 74 and MRQ 76 (newly developed aromatic rice varieties), together with a foreign variety, Intani-2, were screened for genetic markers related to pest and disease resistance. One hundred and twenty-two type-related markers (SSR, STS, InDel and Allele-specific) for genes resistant to bacterial leaf blight, blast and brown planthopper were screened using PCR amplification and validated by sequencing. It was found that each variety had its own pattern of resistance. Using allele-specific markers namely pBPH9, pTA248 and Pisbdom were found to be the most efficient way to screen for the targeted genes. Of the seven varieties, MR219 and MR232 were found to have the highest distribution of markers for resistance genes against pest and diseases studied.
    Matched MeSH terms: INDEL Mutation
  20. Fulltext Psychiatric Presentation in Wilson disease - Report of Two Cases
    Nazariah Aiza, H., Aisah, A.R., Anita, C., Yeoh, S.H., Ng, C.G.
    Malaysian Journal of Psychiatry, 2011;20(2):1-6.
    MyJurnal
    Wilson disease is an inherited metabolic disorder. It is an autosomal recessive disorder caused by mutation of ATP7B gene, which results in excessive accumulation of copper in the body and deposition in various organs. The clinical presentation varies and neuropsychiatric manifestations are common. It is a diagnostic challenge in the initial phase where it mimics other psychiatric conditions and the diagnosis of Wilson disease is based on a combination of laboratory tests and clinical features. Wilson disease treatment comprises of copper chelating therapy such as D-Penicillamine and zinc sulphate wheras the behavior and mood symptoms response well with atypical antipsychotic treatment. The present report illustrates two cases of Wilson disease in middle-aged patients. The first presentation involved changes in behavior and personality. There was some delay in making the diagnosis in the initial stage. Both cases were diagnosed to have Wilson disease after further investigations. Their condition improved with the combination of copper chelating agent and atypical antipsychotic. In conclusion, it emphasizes the awareness of psychiatric manifestations as the initial presentation of Wilson disease.
    Matched MeSH terms: Mutation
Related Terms
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links