Displaying publications 1 - 20 of 49 in total

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  1. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
    Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, et al.
    Brain, 1994 Aug;117 ( Pt 4):645-9.
    PMID: 7922453
    Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to the SCA1 locus on chromosome 6. Most of the families were too small for linkage analysis. The mutation was only found in ADCA type I, in 19 out of 38 such kindreds investigated (50%). It was slightly more common in Italian (59%) than British (50%) families, and was also found in Malaysian, Bangladeshi and Jamaican kindreds. Overall, ADCA type I patients with the expansion had a lower incidence of hyporeflexia and facial fasciculation than those without. The trinucleotide expansion was not found in eight families with ADCA and maculopathy or 24 kindreds with a pure type of ADCA, confirming that these syndromes are genetically distinct. It was also not detected in 12 patients with sporadic degenerative ataxias. DNA analysis for the SCA1 mutation is useful diagnostically in single patients or small families, and can be used for presymptomatic testing where appropriate.
    Matched MeSH terms: DNA/analysis*
  2. The dental identification of victims of an aircraft accident in Malaysia
    Nambiar P, Jalil N, Singh B
    Int Dent J, 1997 Feb;47(1):9-15.
    PMID: 9448783
    On 15 September 1995 a Malaysian Airlines (MAS) Fokker 50 plane plunged while descending and crashed, killing thirty-four passengers aboard. The dental disaster victim identification team comprising dental surgeons from the Dental faculty, University of Malaya; Ministry of Health, Sabah; and the Malaysian Defence Forces played an active role in the identification process. Most of the bodies were badly mutilated, disfigured and severely incinerated. Problems were encountered due to inadequate facilities and space at the mortuary. Difficulties were also encountered during the procurement and deciphering of information from dental records. This disaster has however created greater awareness amongst Malaysians of the important role of forensic odontology in mass disasters.
    Matched MeSH terms: DNA/analysis
  3. Tetraplex PCR assay involving double gene-sites discriminates beef and buffalo in Malaysian meat curry and burger products
    Hossain MA, Ali ME, Hamid SB, Hossain SM, Asing, Nizar NN, et al.
    Food Chem, 2017 Jun 01;224:97-104.
    PMID: 28159299 DOI: 10.1016/j.foodchem.2016.12.062
    Replacement of beef by buffalo and vice versa is frequent in global markets, but their authentication is challenging in processed foods due to the fragmentation of most biomarkers including DNA. The shortening of target sequences through use of two target sites might ameliorate assay reliability because it is highly unlikely that both targets will be lost during food processing. For the first time, we report a tetraplex polymerase chain reaction (PCR) assay targeting two different DNA regions in beef (106 and 120-bp) and buffalo (90 and 138-bp) mitochondrial genes to discriminate beef and buffalo in processed foods. All targets were stable under boiling, autoclaving and microwave cooking conditions. A survey in Malaysian markets revealed 71% beef curries contained buffalo but there was no buffalo in beef burgers. The assay detected down to 0.01ng DNA and 1% meat in admixed and burger products.
    Matched MeSH terms: DNA/analysis
  4. TaqMan probe real-time polymerase chain reaction assay for the quantification of canine DNA in chicken nugget
    Rahman MM, Hamid SB, Basirun WJ, Bhassu S, Rashid NR, Mustafa S, et al.
    Food Addit Contam Part A Chem Anal Control Expo Risk Assess, 2016;33(1):10-8.
    PMID: 26458055 DOI: 10.1080/19440049.2015.1104558
    This paper describes a short-amplicon-based TaqMan probe quantitative real-time PCR (qPCR) assay for the quantitative detection of canine meat in chicken nuggets, which are very popular across the world, including Malaysia. The assay targeted a 100-bp fragment of canine cytb gene using a canine-specific primer and TaqMan probe. Specificity against 10 different animals and plants species demonstrated threshold cycles (Ct) of 16.13 ± 0.12 to 16.25 ± 0.23 for canine DNA and negative results for the others in a 40-cycle reaction. The assay was tested for the quantification of up to 0.01% canine meat in deliberately spiked chicken nuggets with 99.7% PCR efficiency and 0.995 correlation coefficient. The analysis of the actual and qPCR predicted values showed a high recovery rate (from 87% ± 28% to 112% ± 19%) with a linear regression close to unity (R(2) = 0.999). Finally, samples of three halal-branded commercial chicken nuggets collected from different Malaysian outlets were screened for canine meat, but no contamination was demonstrated.
    Matched MeSH terms: DNA/analysis*
  5. Synthesis, Characterization and DNA-Binding Studies of Hydroxyl Functionalized Platinum(II) Salphen Complexes
    Mohd Sukri SA, Heng LY, Abd Karim NH
    J Fluoresc, 2017 May;27(3):1009-1023.
    PMID: 28224358 DOI: 10.1007/s10895-017-2035-0
    The platinum(II) salphen complex N,N'-Bis-4-(hydroxysalicylidene)-phenylenediamine-platinum(II); (1) and its two derivatives containing hydroxyl functionalized side chains N,N'-bis-[4-[[1-(2-hydroxyethoxy)] salicylidene] phenylenediamine-platinum(II); (2) and N,N'-bis-[4-[[1-(3-hydroxypropoxy)] salicylidene] phenylenediamine-platinum(II); (3) were synthesized and characterized. The structures of the complexes were confirmed by 1H and 13C NMR spectroscopy, FTIR, ESI-MS and CHN elemental analyses. The effects of the hydroxyl substituent on the spectral properties and the DNA binding behaviors of the Pt(II) complexes were explored. The binding mode and interactions of these complexes with duplex DNA (calf thymus DNA and porcine DNA) and also single-stranded DNA were studied by UV-Vis and emission DNA titration. The complexes interact with DNA by intercalation binding mode with the binding constants in the order of magnitude (Kb = 104 M-1, CT-DNA) and (Kb = 105 M-1, porcine DNA). The intercalation of the complex in the DNA structure was proposed to happen by π-π stacking due to its square-planar geometry and aromatic rings structure. The phosphorescence emission spectral characteristics of Pt(II) complexes when interacted with DNA have been studied. Also, the application of the chosen hydroxypropoxy side chains complex (3) as an optical DNA biosensor, specifically for porcine DNA was investigated. These findings will be valuable for the potential use of the platinum(II) salphen complex as an optical DNA biosensor for the detection of porcine DNA in food products.
    Matched MeSH terms: DNA/analysis*
  6. Fulltext Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers
    Chong YM, Tan JA, Zubaidah Z, Rahimah A, Kuldip K, George E
    Med J Malaysia, 2006 Jun;61(2):217-20.
    PMID: 16898315
    Thalassaemia is an inherited blood disorder and is a significant public health problem in Malaysia, with many not knowing they carry the gene for thalassaemia. The two major forms are alpha and beta thalassaemia. An individual can co-inherit both the alpha and beta thalassaemia genes. This study determined the frequency of concurrent carriers of alpha thalassaemia in 231 beta thalassaemia carriers. Gap-PCR was done on extracted DNA of the beta thalassaemia samples to check for alpha thalassaemia 1 molecular defect. Eight (3.5%) samples were found to have concurrently inherited the alpha thalassaemia 1 (- -SEA) deletion. The significant carrier rate for alpha thalassaemia 1 indicates the need for the implementation of DNA analysis to complement thalassaemia screening in high risk populations.
    Matched MeSH terms: DNA/analysis*
  7. Revision of Simulium rufibasis (Diptera: Simuliidae) in Japan and Korea: Chromosomes, DNA, and Morphology
    Adler PH, Fukuda M, Takaoka H, Reeves WK, Kim SK, Otsuka Y
    J Med Entomol, 2020 02 27;57(2):388-403.
    PMID: 31746337 DOI: 10.1093/jme/tjz197
    The widespread nominal black fly Simulium (Simulium) rufibasis Brunetti was reexamined morphologically, chromosomally, and molecularly to determine the status of populations in Japan and Korea with respect to S. rufibasis from the type locality in India and to all other known species in the S. (S.) tuberosum species-group. Morphological comparisons established that the species previously known as S. rufibasis in Japan and Korea is distinct from all other species. Consequently, it was described and illustrated as a new species, Simulium (S.) yamatoense. Simulium yokotense Shiraki, formerly a synonym of S. rufibasis, was morphologically reevaluated and considered a species unplaced to species-group in the subgenus Simulium. Chromosomal analyses of S. yamatoense sp. nov. demonstrated that it is unique among all cytologically known species of the S. tuberosum group and is the sister species of the Taiwanese species tentatively known as S. (S.) arisanum Shiraki. Populations of S. yamatoense sp. nov. included two cytoforms, based on the sex chromosomes. Cytoform A, including topotypical representatives, was found in Kyushu, Japan, whereas cytoform B was found in Korea and Honshu, Japan. Molecular analysis based on the COI mitochondrial gene generally corroborated morphological and chromosomal data that S. yamatoense sp. nov. is a distinct species and, like the chromosomal data, indicate that it is most closely related to S. arisanum, with interspecific genetic distance of 2.92-4.63%.
    Matched MeSH terms: DNA/analysis
  8. Relationship between Type A and B personality and debrisoquine hydroxylation capacity
    Gan SH, Ismail R, Wan Adnan WA, Zulmi W, Kumaraswamy N, Larmie ET
    Br J Clin Pharmacol, 2004 Jun;57(6):785-9.
    PMID: 15151524
    A person with Type A personality is an 'aggressor' compared with the rarely harried Type B. Although debrisoquine hydroxylase (CYP2D6) capacity has been associated with personality, no study has specifically investigated its association with personality Type A and B. Therefore the aim of this research was to study the impact of CYP2D6 on Type A and B personality.
    Matched MeSH terms: DNA/analysis
  9. Rapid detection of porcine DNA in processed food samples using a streamlined DNA extraction method combined with the SYBR Green real-time PCR assay
    Tan LL, Ahmed SA, Ng SK, Citartan M, Raabe CA, Rozhdestvensky TS, et al.
    Food Chem, 2020 Mar 30;309:125654.
    PMID: 31678669 DOI: 10.1016/j.foodchem.2019.125654
    A specialized DNA extraction method and a SYBR Green quantitative polymerase chain reaction (SyG-qPCR) assay were combined to generate a ready-to-use kit for rapid detection of porcine admixtures in processed meat products. Our qPCR assay utilized repetitive LINE-1 elements specific to the genome of Sus scrofa domesticus (pig) as a target and incorporated internal controls. We improved the genomic DNA extraction method, and reduced extraction times to the minimum. The method was validated for specificity, sensitivity (0.001% w/w) and robustness, and values were compared with those of a commercially available kit. We also tested our method using 121 processed food products and consistently detected amplification only in samples containing pork. Due to its efficiency and cost-effectiveness, our method represents a valuable new method for detecting food adulteration with pork that is superior to existing quality control approaches.
    Matched MeSH terms: DNA/analysis*
  10. Quantity and quality assessment of DNA extracted from saliva and blood
    Looi ML, Zakaria H, Osman J, Jamal R
    Clin. Lab., 2012;58(3-4):307-12.
    PMID: 22582505
    Saliva has been suggested as an attractive resource for evaluating physiological and pathological conditions in humans. This study aims to evaluate saliva sampling as an alternative to blood sampling for molecular testing.
    Matched MeSH terms: DNA/analysis*
  11. Fulltext Potentially malignant disorders of the oral cavity: current practice and future directions in the clinic and laboratory
    Dionne KR, Warnakulasuriya S, Zain RB, Cheong SC
    Int J Cancer, 2015 Feb 1;136(3):503-15.
    PMID: 24482244 DOI: 10.1002/ijc.28754
    Despite commendable progress in the prevention, detection, and treatment of a wide variety of solid tumor types, oral squamous cell carcinoma (OSCC) remains a significant health burden across the globe. OSCC carcinogenesis involves accumulation of genetic alterations that coincide with the multistep malignant transformation of normal oral epithelium. OSCC is often first diagnosed at late stages of the disease (advanced regional disease and/or metastasis). Delayed diagnosis precludes successful treatment and favorable outcomes. In clinical practice, opportunities exist to identify patients with oral potentially malignant disorders (OPMDs), which precede the development of cancer. This review addresses the current status of laboratory and clinical research on OPMDs, with emphasis on leukoplakia and erythroplakia. OSF is also presented, though there is a paucity of published studies on this disorder. We focus on findings that could translate into earlier diagnosis and more efficacious treatment of those lesions with significant malignant potential. We explore how markers of OPMD malignant transformation might be implemented into current diagnostic practice to help clinicians objectively stratify patients into treatment/follow-up groups according to relative risk. We provide an overview of recently concluded and ongoing OPMD chemoprevention trials. We describe laboratory OPMD models that can be used to not only to reveal the genetic and molecular intricacies of oral cancer but also to develop novel screening methods and therapeutic approaches. Finally, we call for targeted screening programs of at-risk populations in order to facilitate diagnosis and treatment of OPMD and early OSCC.
    Matched MeSH terms: DNA/analysis
  12. Population genetic analysis of host seeking and resting behaviors in the malaria vector, Anopheles balabacensis (Diptera: Culicidae)
    Hii JL, Chew M, Sang VY, Munstermann LE, Tan SG, Panyim S, et al.
    J Med Entomol, 1991 Sep;28(5):675-84.
    PMID: 1682492
    During the intermonsoon period from mid-September to mid-October 1986, wild-caught Anopheles balabacensis Baisas females were marked and released in a host-choice experiment. Association between capture and recapture of marked mosquitoes from human and bovid hosts and blood meal host identification of recaptured females were determined on a daily basis. Although the mark-recapture and blood meal data indicated behavioral heterogeneity between buffalo and human biters, restriction endonuclease fragment length polymorphism analysis revealed no differences in repeat sequence profiles. Doubly-marked recaptures strongly indicated a "learning" component involved in a separate host preference experiment. In a "habitat loyalty" experiment conducted in January 1987, females of An. balabacensis preferentially returned to the resting sites (indoor surfaces and exit traps) where they were first caught. Of nine isozyme loci found to be polymorphic, the genotypic frequencies of Esterase-3 and Isocitrate dehydrogenase-3 were different in "faithfully" endophilic and exophilic subpopulations. Genetic heterozygosity, as determined by polyacrylamide gel electrophoresis, was greater in exophilic than endophilic population components. These results confirm that genetic and learning components can significantly influence house resting and host seeking behavior and may contribute to local epidemiological patterns of malaria transmission observed in Sabah, Malaysia.
    Matched MeSH terms: DNA/analysis*
  13. Polymerase chain reaction assay targeting cytochrome b gene for the detection of dog meat adulteration in meatball formulation
    Rahman MM, Ali ME, Hamid SB, Mustafa S, Hashim U, Hanapi UK
    Meat Sci, 2014 Aug;97(4):404-9.
    PMID: 24769096 DOI: 10.1016/j.meatsci.2014.03.011
    A polymerase chain reaction (PCR) assay for the assessment of dog meat adulteration in meatballs was developed. The assay selectively amplified a 100-bp region of canine mitochondrial cytochrome b gene from pure, raw, processed and mixed backgrounds. The specificity of the assay was tested against 11 animals and 3 plants species, commonly available for meatball formulation. The stability of the assay was proven under extensively autoclaving conditions that breakdown target DNA. A blind test from ready to eat chicken and beef meatballs showed that the assay can repeatedly detect 0.2% canine meat tissues under complex matrices using 0.04 ng of dog DNA extracted from differentially treated meatballs. The simplicity, stability and sensitivity of the assay suggested that it could be used in halal food industry for the authentication of canine derivatives in processed foods.
    Matched MeSH terms: DNA/analysis*
  14. Fulltext Novel DNA Biosensor for Direct Determination of Carrageenan
    Hassan RA, Heng LY, Tan LL
    Sci Rep, 2019 04 23;9(1):6379.
    PMID: 31015498 DOI: 10.1038/s41598-019-42757-y
    A novel disposable electrochemical biosensor based on immobilized calf thymus double-stranded DNA (dsDNA) on the carbon-based screen-printed electrode (SPE) is developed for rapid biorecognition of carrageenan by using methylene blue (MB) redox indicator. The biosensor protocol for the detection of carrageenan is based on the concept of competitive binding of positively charged MB to the negatively charged dsDNA and carrageenan. The decrement in the MB cathodic peak current (ipc) signal as a result of the released MB from the immobilized dsDNA, and attracted to the carrageenan can be monitored via differential pulse voltammetry (DPV). The biosensor showed high sensitivity and selectivity to carrageenan at low concentration without interference from other polyanions such as alginate, gum arabic and starch. Calibration of the biosensor with carrageenan exhibited an excellent linear dependence from 1-10 mg L-1 (R2 = 0.98) with a detection limit of 0.08 mg L-1. The DNA-based carrageenan biosensor showed satisfactory reproducibility with 5.6-6.9% (n = 3) relative standard deviations (RSD), and possessing several advantages such as simplicity, fast and direct application to real sample analysis without any prior extensive sample treatments, particularly for seaweeds and food analyses.
    Matched MeSH terms: DNA/analysis*
  15. Fulltext Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms
    Chen JJ, Tan JA, Chua KH, Tan PC, George E
    BMJ Open, 2015 Jul 22;5(7):e007648.
    PMID: 26201722 DOI: 10.1136/bmjopen-2015-007648
    OBJECTIVES: Single nucleotide polymorphism (SNP) with a mutation can be used to identify the presence of the paternally-inherited wild-type or mutant allele as result of the inheritance of either allele in the fetus and allows the prediction of the fetal genotype. This study aims to identify paternal SNPs located at the flanking regions upstream or downstream from the β-globin gene mutations at CD41/42 (HBB:c.127_130delCTTT), IVS1-5 (HBB:c.92+5G>C) and IVS2-654 (HBB:c.316-197C>T) using free-circulating fetal DNA.

    SETTING: Haematology Lab, Department of Biomedical Science, University of Malaya.

    PARTICIPANTS: Eight couples characterised as β-thalassaemia carriers where both partners posed the same β-globin gene mutations at CD41/42, IVS1-5 and IVS2-654, were recruited in this study.

    OUTCOME MEASURES: Genotyping was performed by allele specific-PCR and the locations of SNPs were identified after sequencing alignment.

    RESULTS: Genotype analysis revealed that at least one paternal SNP was present for each of the couples. Amplification on free-circulating DNA revealed that the paternal mutant allele of SNP was present in three fcDNA. Thus, the fetuses may be β-thalassaemia carriers or β-thalassaemia major. Paternal wild-type alleles of SNP were present in the remaining five fcDNA samples, thus indicating that the fetal genotypes would not be homozygous mutants.

    CONCLUSIONS: This preliminary research demonstrates that paternal allele of SNP can be used as a non-invasive prenatal diagnosis approach for at-risk couples to determine the β-thalassaemia status of the fetus.

    Matched MeSH terms: DNA/analysis*
  16. Fulltext No association of peptide tyrosine-tyrosine (PYY) gene R72T variant with obesity in the Kampar Health Clinic cohort, Malaysia
    Chan PM, Fan SH, Say YH
    Malays J Nutr, 2011 Aug;17(2):201-12.
    PMID: 22303574 MyJurnal
    Peptide Tyrosine-Tyrosine (PYY) is a 36-amino acid peptide hormone released post-prandially from the endocrine cells in the intestinal tract to suppress pancreatic secretions and eventually reduce appetite. The R72T variant in the PYY gene (rs1058046) has been associated with increased susceptibility to obesity. Therefore, the objective of this study was to investigate the association of this variant with obesity and its related anthropometric measurements among the Kampar Health Clinic cohort, Malaysia.
    Matched MeSH terms: DNA/analysis
  17. Multiplex PCR assay for the detection of five meat species forbidden in Islamic foods
    Ali ME, Razzak MA, Hamid SB, Rahman MM, Amin MA, Rashid NR, et al.
    Food Chem, 2015 Jun 15;177:214-24.
    PMID: 25660879 DOI: 10.1016/j.foodchem.2014.12.098
    Food falsification has direct impact on public health, religious faith, fair-trades and wildlife. For the first time, here we described a multiplex polymerase chain reaction assay for the accurate identification of five meat species forbidden in Islamic foods in a single assay platform. Five pairs of species-specific primers were designed targeting mitochondrial ND5, ATPase 6, and cytochrome b genes to amplify 172, 163, 141, 129 and 108 bp DNA fragments from cat, dog, pig, monkey and rat meats, respectively. All PCR products were identified in gel-images and electrochromatograms obtained from Experion Bioanalyzer. Species-specificity checking against 15 important meat and fish and 5 plant species detected no cross-species amplification. Screening of target species in model and commercial meatballs reflected its application to detect target species in process foods. The assay was tested to detect 0.01-0.02 ng DNA under raw states and 1% suspected meats in meatball formulation.
    Matched MeSH terms: DNA/analysis*
  18. Molecularly imprinted polymers-based DNA biosensors
    Nawaz N, Abu Bakar NK, Muhammad Ekramul Mahmud HN, Jamaludin NS
    Anal Biochem, 2021 10 01;630:114328.
    PMID: 34363786 DOI: 10.1016/j.ab.2021.114328
    In multiple biological processes, molecular recognition performs an integral role in detecting bio analytes. Molecular imprinted polymers (MIPs) are tailored sensing materials that can biomimic the biologic ligands and can detect specific target molecules selectively and sensitively. The formulation of molecularly imprinted polymers is followed by the formulation of a control termed as non-imprinted polymer (NIP), which, in the absence of a template, is commonly formulated to evaluate whether distinctive imprints have been produced for the template. Given the difficulties confronting bioanalytical researchers, it is inevitable that this strategy would come out as a central route of multidisciplinary studies to create extremely promising stable artificial receptors as a replacement or accelerate biological matrices. The ease of synthesis, low cost, capability to 'tailor' recognition element for analyte molecules, and stability under harsh environments make MIPs promising candidates as a recognition tool for biosensing. Compared to biological systems, molecular imprinting techniques have several advantages, including high recognition ability, long-term durability, low cost, and robustness, allowing molecularly imprinted polymers to be employed in drug delivery, biosensor technology, and nanotechnology. Molecular imprinted polymer-based sensors still have certain shortcomings in determining biomacromolecules (nucleic acid, protein, lipids, and carbohydrates), considering the vast volume of the latest literature on biomicromolecules. These potential materials are still required to address a few weaknesses until gaining their position in recognition of biomacromolecules. This review aims to highlight the current progress in molecularly imprinted polymers (MIPs)-based sensors for the determination of deoxyribonucleic acid (DNA) or nucleobases.
    Matched MeSH terms: DNA/analysis*
  19. Molecular heterogeneity of beta-thalassaemia in Malaysia: a practical approach to diagnosis
    Thong MK, Law HY, Ng IS
    Ann Acad Med Singap, 1996 Jan;25(1):79-83.
    PMID: 8779552
    The beta-thalassaemia mutations in 20 Malaysian children with beta-thalassaemia major were characterised by using a multi-modal approach, consisting of a slot-blot hybridisation with selected allele-specific oligonucleotides (ASO), followed by reverse dot-blot assay (RDB), amplification refractory mutation system (ARMS) and genomic sequencing. This strategy yielded a 94.4% mutation detection rate. The 6 most common mutations were codons 41/42 (-TTCT), IVS II nt 654(C --> T), IVS I nt 5(G --> C), IVS I nt 1(G -->T), codon 35 (-C) and codon 19 (A --> G), which accounted for 83.3% of all mutations detected. A strategy of initial screening with the above 6 selected ASOs for slot-blot hybridisation followed by RDB assay for the less common Asian mutations would give a mutation identification of 91.7%. Another feasible approach would be to analyse alleles from a particular racial group, by a judicious selection of 4 ASOs common to that particular subpopulation and then supplement this with RDB assay. This could yield a 100% coverage for the Chinese subpopulation in Malaysia. With these strategies, a practical approach has been identified to overcome the pitfalls posed by the molecular heterogeneity of beta-thalassaemia to enable prenatal diagnosis and carrier screening to be carried out. Regional collaborative studies are to be encouraged as an indispensable tool in providing better health care services to our patients.
    Matched MeSH terms: DNA/analysis*
  20. Molecular basis of beta thalassemia in the south of Thailand
    Laosombat V, Fucharoen SP, Panich V, Fucharoen G, Wongchanchailert M, Sriroongrueng W, et al.
    Am J Hematol, 1992 Nov;41(3):194-8.
    PMID: 1415194
    A total of 103 beta thalassemia genes from 78 children (45 with Hb E/beta thalassemia, 8 with beta thalassemia heterozygotes, and 25 with homozygous beta thalassemia) were analyzed using dot-blot hybridization of the polymerase chain reaction-amplified DNA and direct DNA sequencing. Nine mutations were characterized in 98/103 (95%) of beta thalassemia alleles, of which six (a 4 bp deletion in codons 41-42, a G-C transition at position 5 of IVS-1, A-G transition at codon 19, an A-T transition at codon 17, an A-G transition at position -28 upstream of the beta globin gene, a G-T transition at position 1 of IVS-1), accounted for 92%. The spectrum of beta thalassemia mutations in Chinese Thai is similar to that reported among the Chinese from other parts of the world. The distribution of beta thalassemia mutations in Muslim Thai is similar to that reported among Malaysians. The most common beta thalassemia mutation in Thai and Chinese Thai patients is the frameshift mutation at codons 41-42, in comparison with the Muslim Thai in whom the G-C transition at position 5 of the IVS-1 mutation predominates. The heterogeneity of molecular defects causing beta thalassemia should aid in the planning of a prenatal diagnosis program for beta thalassemia in the South of Thailand.
    Matched MeSH terms: DNA/analysis
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