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  1. Fulltext Genetic relationship among Labisia pumila (Myrsinaceae) species based on ISSR-PCR
    Karimi E, Jaafar HZ, Aziz MA, Taheri S, AzadiGonbad R
    Genet. Mol. Res., 2014;13(2):3301-9.
    PMID: 24841662 DOI: 10.4238/2014.April.29.8
    The genus Labisia (Myrsinaceae) is a popular medicinal plant in Malaysia. We examined the genetic relationship among three varieties of L. pumila var. pumila, L. pumila var. alata, L. pumila var. lanceolata and Labisia paucifolia using an ISSR assay. Fifty-eight primers were tested, among which 18 gave reliable polymorphic banding patterns; these yielded 264 polymorphic markers. A similarity matrix was used to construct a dendrogram, and a principal component plot was developed to examine genetic relationships among varieties. Jaccard's similarity coefficient among species ranged from 0.09 to 0.14. At a similarity of 0.117%, species were divided into two main clusters. The mean value of the observed number of alleles, the effective number of alleles, mean Nei's gene diversity, and Shannon's information index were 1.98, 1.64, 0.38, and 0.57, respectively.
    Matched MeSH terms: Plants, Medicinal/genetics; Microsatellite Repeats/genetics*; Myrsinaceae/genetics*
  2. The complete mitogenome of the marine bivalve Lutraria rhynchaena Jonas 1844 (Heterodonta: Bivalvia: Mactridae)
    Gan HM, Tan MH, Thai BT, Austin CM
    Mitochondrial DNA A DNA Mapp Seq Anal, 2016;27(1):335-6.
    PMID: 24617474 DOI: 10.3109/19401736.2014.892104
    The complete mitochondrial genome of the commercially important snout otter clam Lutraria rhynchaena was obtained from low-coverage shotgun sequencing data on the MiSeq platform. The L. rhynchaena mitogenome has 16,927 base pairs (69% A + T content) and made up of 12 protein-coding genes, 2 ribosomal subunit genes, 22 transfer RNAs, and a 953 bp non-coding AT-rich region. This is the first mitogenome to be sequenced from the genus Lutraria, and the seventh to be reported for the family Mactridae.
    Matched MeSH terms: DNA, Mitochondrial/genetics; RNA, Transfer/genetics; Bivalvia/genetics*
  3. A hybrid of bees algorithm and flux balance analysis with OptKnock as a platform for in silico optimization of microbial strains
    Choon YW, Mohamad MS, Deris S, Illias RM, Chong CK, Chai LE
    Bioprocess Biosyst Eng, 2014 Mar;37(3):521-32.
    PMID: 23892659 DOI: 10.1007/s00449-013-1019-y
    Microbial strain optimization focuses on improving technological properties of the strain of microorganisms. However, the complexities of the metabolic networks, which lead to data ambiguity, often cause genetic modification on the desirable phenotypes difficult to predict. Furthermore, vast number of reactions in cellular metabolism lead to the combinatorial problem in obtaining optimal gene deletion strategy. Consequently, the computation time increases exponentially with the increase in the size of the problem. Hence, we propose an extension of a hybrid of Bees Algorithm and Flux Balance Analysis (BAFBA) by integrating OptKnock into BAFBA to validate the result. This paper presents a number of computational experiments to test on the performance and capability of BAFBA. Escherichia coli, Bacillus subtilis and Clostridium thermocellum are the model organisms in this paper. Also included is the identification of potential reactions to improve the production of succinic acid, lactic acid and ethanol, plus the discussion on the changes in the flux distribution of the predicted mutants. BAFBA shows potential in suggesting the non-intuitive gene knockout strategies and a low variability among the several runs. The results show that BAFBA is suitable, reliable and applicable in predicting optimal gene knockout strategy.
    Matched MeSH terms: Bacillus subtilis/genetics; Escherichia coli/genetics; Clostridium thermocellum/genetics
  4. [Simple and rapid analysis of beta-thalassemia mutation by sequence-specific amplification]
    Harano K, Harano T
    Rinsho Byori, 2013 Mar;61(3):217-23.
    PMID: 23785790
    This study was done to detect and diagnose beta-thalassemia (beta-Thal) gene quickly. We applied sequence specific Amplification (SSA) method to the analysis. 13 kinds of beta-Thal and two kinds of hemoglobin variants were able to detect under the same PCR condition. These mutations were found frequently in ten countries of Asian region (the southern part of China, Vietnam, Cambodia, Thailand, Myanmar, Malaysia, Singapore, Indonesia, Pakistan, India), and 15 kinds in total (-28CapA-->G, CD5-CT, CD8/9+-G, CD15G-->A, CD17A-->T, IVSI-1G-->T, CD41/42-4del, CD16-C, CD26G-->A(betaE), IVSI-5G-->C, CD35C-->A, CD71/72 +A, CD6A-->T (betaS), -619del, IVSII-654C-->T). More than 80% of patients are included in these mutations. To make the reagents a kit, the procedure became simple and rapid. DNA was extracted by salting out method. The PCR product was detected by polyacrylamide gel electrophoresis and silver staining. The confirmation of the variant was done by the PCR-direct sequencing method. It took approximately six hours for PCR reaction, electrophoresis and staining. This method made us to detect and diagnose beta-Thal in one day.
    Matched MeSH terms: Gene Frequency/genetics*; Mutation/genetics*; beta-Thalassemia/genetics
  5. Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease
    Chua KH, Hilmi I, Lian LH, Patmanathan SN, Hoe SZ, Lee WS, et al.
    J Dig Dis, 2012 Sep;13(9):459-65.
    PMID: 22908971 DOI: 10.1111/j.1751-2980.2012.00617.x
    This study was aimed to investigate the possible association of Crohn's disease (CD) with inflammatory bowel disease gene 5 (IBD5) IGR2198a_1 (rs11739135), IGR2096a_1 (rs12521868) and interleukin-23 receptor (IL23R) genetic variant (rs1004819) in the Malaysian population.
    Matched MeSH terms: Crohn Disease/genetics*; Inflammatory Bowel Diseases/genetics*; Receptors, Interleukin/genetics*
  6. Fulltext Increased recovery and improved purity of PHA from recombinant Cupriavidus necator
    Anis SN, Iqbal NM, Kumar S, Al-Ashraf A
    Bioengineered, 2013 Mar-Apr;4(2):115-8.
    PMID: 23018620 DOI: 10.4161/bioe.22350
    A simple procedure for recovering biodegradable polymer from bacterial cells has been developed using economical and environmentally friendly solvent or chemicals. Recombinant bacterium, Cupriavidus necator harboring pBBR1MCS-C2 plasmid polyhydroxyalkanoate (PHA) synthase gene was used for the production of copolymer P(3HB-co-3HHx) from crude palm kernel oil (CPKO). NaOH was chosen in this study as it could give high purity and recovery yield. Increase of NaOH concentration had resulted in an increase of the PHA purity, but the recovery yield had decreased. The greater improvement of PHA purity and recovery were achieved by incubating the freeze-dried cells (10-30 g/L) in NaOH (0.1 M) for 1-3 h at 30°C and polishing using 20% (v/v) of ethanol. The treatment caused negligible degradation of the molecular weight of PHA recovered from the bacterial cells. The present review also highlights other extraction methods to provide greater insights into economical and sustainable recovery of PHA from bacterial cells.
    Matched MeSH terms: Acyltransferases/genetics; Plasmids/genetics; Cupriavidus necator/genetics
  7. Fulltext Distinct genetic lineages of Bactrocera caudata (Insecta: Tephritidae) revealed by COI and 16S DNA sequences
    Lim PE, Tan J, Suana IW, Eamsobhana P, Yong HS
    PLoS One, 2012;7(5):e37276.
    PMID: 22615962 DOI: 10.1371/journal.pone.0037276
    The fruit fly Bactrocera caudata is a pest species of economic importance in Asia. Its larvae feed on the flowers of Cucurbitaceae such as Cucurbita moschata. To-date it is distinguished from related species based on morphological characters. Specimens of B. caudata from Peninsular Malaysia and Indonesia (Bali and Lombok) were analysed using the partial DNA sequences of cytochrome c oxidase subunit I (COI) and 16S rRNA genes. Both gene sequences revealed that B. caudata from Peninsular Malaysia was distinctly different from B. caudata of Bali and Lombok, without common haplotype between them. Phylogenetic analysis revealed two distinct clades, indicating distinct genetic lineage. The uncorrected 'p' distance for COI sequences between B. caudata of Malaysia-Thailand-China and B. caudata of Bali-Lombok was 5.65%, for 16S sequences from 2.76 to 2.99%, and for combined COI and 16S sequences 4.45 to 4.46%. The 'p' values are distinctly different from intraspecific 'p' distance (0-0.23%). Both the B. caudata lineages are distinctly separated from related species in the subgenus Zeugodacus - B. ascita, B. scutellata, B. ishigakiensis, B. diaphora, B. tau, B. cucurbitae, and B. depressa. Molecular phylogenetic analysis indicates that the B. caudata lineages are closely related to B. ascita sp. B, and form a clade with B. scutellata, B. ishigakiensis, B. diaphora and B. ascita sp. A. This study provides additional baseline for the phylogenetic relationships of Bactrocera fruit flies of the subgenus Zeugodacus. Both the COI and 16S genes could be useful markers for the molecular differentiation and phylogenetic analysis of tephritid fruit flies.
    Matched MeSH terms: Electron Transport Complex IV/genetics*; DNA, Ribosomal/genetics*; Tephritidae/genetics*
  8. Fulltext Analysis of Antarctic proteobacteria by PCR fingerprinting and screening for antimicrobial secondary metabolites
    Lee LH, Cheah YK, Nurul Syakima AM, Shiran MS, Tang YL, Lin HP, et al.
    Genet. Mol. Res., 2012;11(2):1627-41.
    PMID: 22782582 DOI: 10.4238/2012.June.15.12
    Fifty-seven proteobacterium species were successfully isolated from soils of Barrientos Island of the Antarctic using 11 different isolation media. Analysis of 16S rDNA sequencing of these isolates showed that they belonged to eight different genera, namely Bradyrhizobium, Sphingomonas, Methylobacterium, Caulobacter, Paracoccus, Ralstonia, Rhizobium, and Staphylococcus. All isolates were studied for capability of producing antimicrobial and antifungal secondary metabolites using high-throughput screening models. Approximately 23 (13/57) and 2% (1/57) of isolates inhibited growth of Candida albicans ATCC 10231(T) and Staphylococcus aureus ATCC 51650(T), respectively. These results indicated that proteobacterium species isolates from Antarctic could serve as potential source of useful bioactive metabolites. Enterobacterial repetitive intergenic consensus (ERIC)-PCR fingerprinting produced nine clusters and 13 single isolates, with a high D value of 0.9248. RAPD fingerprinting produced six clusters and 13 single isolates, with a relatively low D value of 0.7776. ERIC-PCR analysis proved to have better discrimination capability than RAPD analysis and generated better clustering for all proteobacterium species isolates. We conclude that ERIC-PCR is a robust, reliable and rapid molecular typing method for discriminating different genera of proteobacteria.
    Matched MeSH terms: DNA, Bacterial/genetics*; Bradyrhizobium/genetics; Proteobacteria/genetics*
  9. Fulltext Analysis of simple sequence repeat markers linked with blast disease resistance genes in a segregating population of rice (Oryza sativa)
    Ashkani S, Rafii MY, Sariah M, Siti Nor Akmar A, Rusli I, Abdul Rahim H, et al.
    Genet. Mol. Res., 2011 Jul 06;10(3):1345-55.
    PMID: 21751161 DOI: 10.4238/vol10-3gmr1331
    Among 120 simple sequence repeat (SSR) markers, 23 polymorphic markers were used to identify the segregation ratio in 320 individuals of an F(2) rice population derived from Pongsu Seribu 2, a resistant variety, and Mahsuri, a susceptible rice cultivar. For phenotypic study, the most virulent blast (Magnaporthe oryzae) pathotype, P7.2, was used in screening of F(2) population in order to understand the inheritance of blast resistance as well as linkage with SSR markers. Only 11 markers showed a good fit to the expected segregation ratio (1:2:1) for the single gene model (d.f. = 1.0, P < 0.05) in chi-square (χ(2)) analyses. In the phenotypic data analysis, the F(2) population segregated in a 3:1 (R:S) ratio for resistant and susceptible plants, respectively. Therefore, resistance to blast pathotype P7.2 in Pongsu Seribu 2 is most likely controlled by a single nuclear gene. The plants from F(2) lines that showed resistance to blast pathotype P7.2 were linked to six alleles of SSR markers, RM168 (116 bp), RM8225 (221 bp), RM1233 (175 bp), RM6836 (240 bp), RM5961 (129 bp), and RM413 (79 bp). These diagnostic markers could be used in marker assisted selection programs to develop a durable blast resistant variety.
    Matched MeSH terms: Plant Diseases/genetics*; Oryza/genetics*; Minisatellite Repeats/genetics*
  10. Novel polymorphic microsatellite DNA markers from Malaysian giant freshwater prawn, Macrobrachium rosenbergii
    See LM, Hassan R, Tan SG, Bhassu S
    Genetika, 2011 Apr;47(4):566-9.
    PMID: 21675248
    Seven single locus microsatellite markers were characterized in Malaysian giant freshwater prawn, Macrobrachium rosenbergii from an enriched genomic library Primer pairs were designed to flank the repeat sequences and the loci characterized for this species. The bands resulting from the PCR amplifications of these eight microsatellite loci were polymorphic with the number of alleles ranging from 8 to 26 alleles per locus, whereas the observed heterozygosity ranged from 0.0641 to 0.6564. These newly developed microsatellite markers should prove to be useful for population studies and in the management of genetic variations in broodstocks of freshwater prawn, M. rosenbergii.
    Matched MeSH terms: Microsatellite Repeats/genetics*; Palaemonidae/genetics*; Genetic Loci/genetics*
  11. Microsatellite based analysis of genetic diversity of popular black pepper genotypes in South India
    Joy N, Prasanth VP, Soniya EV
    Genetica, 2011 Aug;139(8):1033-43.
    PMID: 21874534 DOI: 10.1007/s10709-011-9605-x
    The genotypes of black pepper are morphologically and genotypically highly diverse and carry all the cumulative variations inherited and maintained through generations. The present study describes the Simple Sequence Repeat (SSR) or microsatellite based assessment of genetic diversity among forty popular genotypes and four different species of black pepper in Southern region of India. For isolation of SSR primers, our earlier attempts with enrichment strategies like 'Triplex affinity capture' did not extract a single SSR primer due to close proximity of restriction sites to the SSR motif. Hence we developed a 'Sequential Reverse Genome Walking (SRGW)' strategy with better enrichment efficiency of 72% that generated seven new SSR primers. Genotyping precisely discriminated majority of genotypes which indicated that the SSR primers are very informative. A total of 62 alleles with an average of 15.5 alleles over 4 loci were identified. All the SSR primers showed an average Polymorphism Information Content (PIC) value of 0.85. The estimated average Shared Allele Frequency ranged between 1.57 and 20.12%. The PCA plot revealed four closely related individual groups and identified Karimunda, Wild pepper and a local landrace 'local b' as the most divergent genotypes. Cluster analysis exposed the genetic relatedness between hybrids and selections with other known cultivars. The introduction of black pepper from South India to Malaysia was emphasized from the observation of genetic similarity of Malaysian cultivar 'Kuching' with other indigenous popular cultivars. The study was first to portray the precise genetic relatedness among the major indigenous genotypes of black pepper.
    Matched MeSH terms: Genetic Variation/genetics*; Microsatellite Repeats/genetics*; Piper nigrum/genetics*
  12. Genetic divergence and evolutionary relationship in Fejervarya cancrivora from Indonesia and other Asian countries inferred from allozyme and MtDNA sequence analyses
    Kurniawan N, Islam MM, Djong TH, Igawa T, Daicus MB, Yong HS, et al.
    Zoolog Sci, 2010 Mar;27(3):222-33.
    PMID: 20192690 DOI: 10.2108/zsj.27.222
    To elucidate genetic divergence and evolutionary relationship in Fejervarya cancrivora from Indonesia and other Asian countries, allozyme and molecular analyses were carried out using 131 frogs collected from 24 populations in Indonesia, Thailand, Bangladesh, Malaysia, and the Philippines. In the allozymic survey, seventeen enzymatic loci were examined for 92 frogs from eight representative localities. The results showed that F. cancrivora is subdivided into two main groups, the mangrove type and the large- plus Pelabuhan ratu types. The average Nel's genetic distance between the two groups was 0.535. Molecular phylogenetic trees based on nucleotide sequences of the 16S rRNA and Cyt b genes and constructed with the ML, MP, NJ, and BI methods also showed that the individuals of F. cancrivora analyzed comprised two clades, the mangrove type and the large plus Pelabuhan ratu / Sulawesi types, the latter further split into two subclades, the large type and the Pelabuhan ratu / Sulawesi type. The geographical distribution of individuals of the three F. cancrivora types was examined. Ten Individuals from Bangladesh, Thailand, and the Philippines represented the mangrove type; 34 Individuals from Malaysia and Indonesia represented the large type; and 11 individuals from Indonesia represented the Pelabuhan ratu / Sulawesi type. Average sequence divergences among the three types were 5.78-10.22% for the 16S and 12.88-16.38% for Cyt b. Our results suggest that each of the three types can be regarded as a distinct species.
    Matched MeSH terms: Anura/genetics*; DNA, Mitochondrial/genetics*; Isoenzymes/genetics
  13. Effect of parental genotypes and paternal heterosis on litter traits in crossbred goats
    Tsukahara Y, Choumei Y, Oishi K, Kumagai H, Kahi AK, Panandam JM, et al.
    J. Anim. Breed. Genet., 2008 Apr;125(2):84-8.
    PMID: 18363973 DOI: 10.1111/j.1439-0388.2007.00692.x
    The effect of parental genotype and paternal heterosis on litter size (LS), total litter birth weight (TLW) and average litter birth weight (ALW) was analysed utilizing data from a crossbreeding programme involving the exotic German Fawn goats and local Katjang goats in Malaysia. In this study, these traits were regarded as traits of the litter to consider the effect of service sire genotype. The results revealed that LS was significantly influenced by the genotype of sire. The genotypes of sire and dam had significant effects on TLW and ALW. Estimates of crossbreeding parameter showed significant and negative influence of paternal heterosis on TLW and ALW while there was no significant effect of paternal heterosis on LS. The results of this study stress the need to reconsider the use of local males in the tropics.
    Matched MeSH terms: Birth Weight/genetics*; Goats/genetics*; Litter Size/genetics*
  14. Durianella, a new gasteroid genus of boletes from Malaysia
    Desjardin DE, Wilson AW, Binder M
    Mycologia, 2009 2 11;100(6):956-61.
    PMID: 19202849
    Hydnangium echinulatum, described originally from a single specimen collected in Malaysia, has been recollected, and based on morphological and molecular characters is recognized as representing a new gasteroid genus of boletes with affinities to the Boletineae, herein named Durianella. Diagnostic features include an epigeous, ovoid, pyramidal-warted, durian fruit-like basidiome with gelatinized glebal locules and a columella that turns indigo blue upon exposure, and subglobose basidiospores with long, curved, thin-walled and collapsible spines. A redescription, phylogenetic analysis and comparison with allied taxa are presented.
    Matched MeSH terms: Agaricales/genetics; DNA, Fungal/genetics; DNA, Ribosomal/genetics
  15. X-linked dyskeratosis congenita in Malaysia
    Hamidah A, Rashid RA, Jamal R, Zhao M, Kanegane H
    Pediatr Blood Cancer, 2008 Feb;50(2):432.
    PMID: 17417794
    Matched MeSH terms: Nuclear Proteins/genetics*; Cell Cycle Proteins/genetics*; Dyskeratosis Congenita/genetics*
  16. STR data for the AmpFlSTR Identifiler loci from the three main ethnic indigenous population groups (Iban, Bidayuh, and Melanau) in Sarawak, Malaysia
    Suadi Z, Siew LC, Tie R, Hui WB, Asam A, Thiew SH, et al.
    J Forensic Sci, 2007 Jan;52(1):231-4.
    PMID: 17209948
    Matched MeSH terms: Ethnic Groups/genetics*; Genetics, Population*
  17. Phylogenetic analysis of hampala fishes (subfamily Cyprininae) in Malaysia inferred from partial mitochondrial cytochrome B DNA sequences
    Ryan JR, Esa YB
    Zoolog Sci, 2006 Oct;23(10):893-901.
    PMID: 17116992
    This study examined 396 base pairs of the mitochondrial cytochrome b gene from 110 individuals belonging to the genus Hampala, a group of freshwater cyprinids that inhabit Southeast Asia. The samples were taken from various locations throughout Sarawak, Sabah, and peninsular Malaysia. The nucleotide sequences were subjected to phylogenetic analyses by using the neighbor-joining, maximum parsimony, and maximum likelihood methods. All three methods revealed the reciprocally monophyletic relationship of Hampala macrolepidota to the other Hampala forms, thus strongly supporting its status as a distinct species. Phylogenetic analysis also discovered the existence of two H. bimaculata lineages endemic to Borneo: (1) a newly identified species from the southern and central part of Sarawak assigned as H. bimaculata Type A and (2) the previously described H. bimaculata from northern Sarawak and the west coast of Sabah assigned as H. bimaculata Type B. However, the status of H. sabana and an intermediate form were not elucidated. The results suggest that the intermediate form from the Tawau population is actually a subpopulation of H. sabana, while the highly divergent intermediate form from Kalabakan could represent a cryptic species. The sharing of H. macrolepidota haplotypes in the southern peninsular Malaysia and southern and central Sarawak samples (Hm1 and Hm2) reflected the recent disconnection of the two regions, during the late Pleistocene. Overall, the partial sequence of the mitochondrial cytochrome b gene was useful for resolving the phylogenetic relationships among Hampala fishes in Malaysia.
    Matched MeSH terms: Cypriniformes/genetics*; DNA, Mitochondrial/genetics*; Cytochromes b/genetics*
  18. Blast resistance in rice: a review of conventional breeding to molecular approaches
    Miah G, Rafii MY, Ismail MR, Puteh AB, Rahim HA, Asfaliza R, et al.
    Mol Biol Rep, 2013 Mar;40(3):2369-88.
    PMID: 23184051 DOI: 10.1007/s11033-012-2318-0
    Blast disease caused by the fungal pathogen Magnaporthe oryzae is the most severe diseases of rice. Using classical plant breeding techniques, breeders have developed a number of blast resistant cultivars adapted to different rice growing regions worldwide. However, the rice industry remains threatened by blast disease due to the instability of blast fungus. Recent advances in rice genomics provide additional tools for plant breeders to improve rice production systems that would be environmentally friendly. This article outlines the application of conventional breeding, tissue culture and DNA-based markers that are used for accelerating the development of blast resistant rice cultivars. The best way for controlling the disease is to incorporate both qualitative and quantitative genes in resistant variety. Through conventional and molecular breeding many blast-resistant varieties have been developed. Conventional breeding for disease resistance is tedious, time consuming and mostly dependent on environment as compare to molecular breeding particularly marker assisted selection, which is easier, highly efficient and precise. For effective management of blast disease, breeding work should be focused on utilizing the broad spectrum of resistance genes and pyramiding genes and quantitative trait loci. Marker assisted selection provides potential solution to some of the problems that conventional breeding cannot resolve. In recent years, blast resistant genes have introgressed into Luhui 17, G46B, Zhenshan 97B, Jin 23B, CO39, IR50, Pusa1602 and Pusa1603 lines through marker assisted selection. Introduction of exotic genes for resistance induced the occurrence of new races of blast fungus, therefore breeding work should be concentrated in local resistance genes. This review focuses on the conventional breeding to the latest molecular progress in blast disease resistance in rice. This update information will be helpful guidance for rice breeders to develop durable blast resistant rice variety through marker assisted selection.
    Matched MeSH terms: Plant Diseases/genetics*; Oryza/genetics*; Disease Resistance/genetics*
  19. Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene
    Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP
    Can J Neurol Sci, 2004 Aug;31(3):383-6.
    PMID: 15376485
    BACKGROUND: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype.

    OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.

    SETTING: Tertiary referral university hospital setting.

    PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.

    RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.

    CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.

    Matched MeSH terms: Chorea/genetics*; Friedreich Ataxia/genetics*; Iron-Binding Proteins/genetics*
  20. Fulltext Analysis of α1 and α2 globin genes among patients with hemoglobin Adana in Malaysia
    Lee TY, Lai MI, Ismail P, Ramachandran V, Tan JA, Teh LK, et al.
    Genet. Mol. Res., 2016 Apr 07;15(2).
    PMID: 27173219 DOI: 10.4238/gmr.15027400
    Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a non-deletional α-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana α-thalassemia intermedia and 10 Hb Adana trait blood samples were collected from patients. Common deletional and non-deletional α-thalassemia genotypes were determined using multiplex gap polymerase chain reaction (PCR) and multiplex ARMS PCR techniques. Identification of the Hb Adana location on the α-globin gene was carried out using genomic sequencing and the location of the mutation was confirmed via restriction fragment length polymorphism-PCR. Among the 36 samples, 24 (66.7%) had the -α(3.7)/α(Cd59)α mutation, while the -α(3.7)/α(Cd59)α mutation accounted for 2 samples (5.6%) and the remaining 10 (27.8%) samples were α/α(Cd59)α. All 36 samples were found to have the Hb Adana mutation on the α2-globin gene. The position of the α-globin gene mutation found in our cases was similar to that reported in Indonesia (16%) but not to that in Turkey (0.6%). Our results showed that the Hb Adana mutation was preferentially present in the α2-globin genes in Malays compared to the other ethnicities in Malaysia. Thus, the Malays might have similar ancestry based on the similarities in the Hb Adana position.
    Matched MeSH terms: Hemoglobin A/genetics*; Hemoglobins, Abnormal/genetics*; alpha-Thalassemia/genetics*
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