Displaying publications 1 - 20 of 406 in total

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  1. Genetic polymorphisms of human transcription factor-7 like 2 (TCF7L2), β-defensin (DEFB1) and CD14 genes in nephrolithiasis patients
    Mehdi WA, Mehde AA, Raus RA, Yusof F, Abidin ZAZ, Ghazali H, et al.
    Int J Biol Macromol, 2018 Oct 15;118(Pt A):610-616.
    PMID: 29959006 DOI: 10.1016/j.ijbiomac.2018.06.113
    BACKGROUND: It is assumed that genetic factors play crucial role in nephrolithiasis. The present study was conducted to explore the role of Human Transcription Factor-7 like-2 (TCF7L2) β-defensin (DEFB1) and CD14 gene polymorphism in development and progression of nephrolithiasis.

    METHODS: The genotypes of TCF7L2, DEFB1 and CD14 polymorphism were determined in 240 nephrolithiasis patients and 240 healthy controls by restriction digestion method of PCR. The levels of serum TCF7L2, DEFB1, CD14, uric acid and other biochemical parameters were measured both in nephrolithiasis patients and healthy control.

    RESULTS: The patients and control groups showed 30% and 50% 1654 AA DEFB1 genotype respectively. The Allele frequency in case of patient's group was 63.67% while in control group it was 36.33%. The mean serum DEFB1 levels of the patients and control groups attained were 115.66 and 239.43 pg/mL respectively. The allele frequency of TCF7L2 in patients and controls were 44.17% and 70.0% for C-allele, 55.83% and 30.00% for T-allele respectively. The mean of serum TCF7L2 levels were significantly decreased in patients compared to control group.

    CONCLUSIONS: The present findings are first of its class that validates a considerable connection of DEFB1 and TCF7L2 gene polymorphisms with nephrolithiasis and could probably act as indicators to estimate the risk associated to nephrolithiasis.

    Matched MeSH terms: Gene Frequency
  2. Nasopharyngeal carcinoma and histocompatibility antigens
    Simons MJ, Chan SH, Wee GB, Shanmugaratnam K, Goh EH, Ho JH, et al.
    IARC Sci Publ, 1978.
    PMID: 730194
    New data are presented concerning the relationship between NPC and HLA antigens among Chinese. When attention is confined to newly diagnosed cases, it can be shown that, apart from the increased risk associated with the joint occurrence of A2 and B-Sin 2, there is also an increased risk associated with BW17 and a decrease in risk associated with A11. Among long-term survivors, however, BW17 is appreciably decreased, whereas A2 in the absence of B-Sin 2 or BW17 is increased. Among Malays, a non-Chinese group, there is an excess among NPC patients of a locus A blank, a blank which is probably associated with the AW19 complex.
    Matched MeSH terms: Gene Frequency
  3. A novel single nucleotide polymorphism, IVS2 -97A>T, in the prostaglandin F2alpha receptor gene was identified among the Malaysian patients with glaucoma
    Peng HB, Zahary MN, Tajudin LS, Lin CL, Teck CM, Sidek MR, et al.
    Kobe J Med Sci, 2007;53(1-2):49-52.
    PMID: 17582204
    The Prostaglandin F2alpha (PGF2alpha) receptor gene has been found to play an important role in reducing the intraocular pressure of the glaucomatous patients. Variations of the PGF2alpha receptor gene may be responsible for the differences in the response to an antiglaucoma drug, Latanoprost. A combined method of denaturing High Performance Liquid Chromatography (dHPLC) and sequencing was applied to detection of the PGF2alpha receptor gene variant among the 76 Malaysian patients with glaucoma, and a novel single nucleotide polymorphism (SNP), IVS -97A>T, was identified. According to the genotyping analysis, 36.8% of the subjects were heterozygous for the variant allele T, while 9.2% homozygous. The frequency of variant allele T was 0.28. Although with a limited number of samples, our data suggested that this polymorphism is common in the Malaysian patients with glaucoma.
    Matched MeSH terms: Gene Frequency
  4. Fulltext Gastric precancerous lesions are associated with gene variants in Helicobacter pylori-susceptible ethnic Malays
    Maran S, Lee YY, Xu S, Rajab NS, Hasan N, Syed Abdul Aziz SH, et al.
    World J Gastroenterol, 2013 Jun 21;19(23):3615-22.
    PMID: 23801863 DOI: 10.3748/wjg.v19.i23.3615
    To identify genes associated with gastric precancerous lesions in Helicobacter pylori (H. pylori)-susceptible ethnic Malays.
    Matched MeSH terms: Gene Frequency
  5. Fulltext Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1
    Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA
    J Dent Res, 2011 Mar;90(3):387-91.
    PMID: 21297019 DOI: 10.1177/0022034510391798
    Non-syndromic cleft lip, with or without cleft palate, is a heterogeneous, complex disease with a high incidence in the Asian population. Several association studies have been done on cleft candidate genes, but no reports have been published thus far on the Orofacial Cleft 1 (OFC1) genomic region in an Asian population. This study investigated the association between the OFC1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 Malay father-mother-offspring trios. Results showed a preferential over-transmission of a 101-bp allele of marker D6S470 in the allele- and haplotype-based transmission disequilibrium test (TDT), as well as an excess of maternal transmission. However, no significant p-value was found for a maternal genotype effect in a log-linear model, although single and double doses of the 101-bp allele showed a slightly increased cleft risk (RR = 1.37, 95% CI, 0.527-3.4, p-value = 0.516). Carrying two copies of the 101-bp allele was significantly associated with an increased cleft risk (RR = 2.53, 95% CI, 1.06-6.12, p-value = 0.035). In conclusion, we report evidence of the contribution of the OFC1 genomic region to the etiology of clefts in a Malay population.
    Matched MeSH terms: Gene Frequency
  6. A geographical traceability system for Merbau (Intsia palembanica Miq.), an important timber species from peninsular Malaysia
    Ng CH, Ng KKS, Lee SL, Tnah LH, Lee CT, Zakaria NF
    Forensic Sci Int Genet, 2020 01;44:102188.
    PMID: 31648150 DOI: 10.1016/j.fsigen.2019.102188
    To inform product users about the origin of timber, the implementation of a traceability system is necessary for the forestry industry. In this study, we developed a comprehensive genetic database for the important tropical timber species Merbau, Intsia palembanica, to trace its geographic origin within peninsular Malaysia. A total of 1373 individual trees representing 39 geographically distinct populations of I. palembanica were sampled throughout peninsular Malaysia. We analyzed the samples using a combination of four chloroplast DNA (cpDNA) markers and 14 short tandem repeat (STR) markers to establish both cpDNA haplotype and STR allele frequency databases. A haplotype map was generated through cpDNA sequencing for population identification, resulting in six unique haplotypes based on 10 informative intraspecifically variable sites. Subsequently, an STR allele frequency database was developed from 14 STRs allowing individual identification. Bayesian cluster analysis divided the individuals into two genetic clusters corresponding to the northern and southern regions of peninsular Malaysia. Tests of conservativeness showed that the databases were conservative after the adjustment of the θ values to 0.2000 and 0.2900 for the northern (f = 0.0163) and southern (f = 0.0285) regions, respectively. Using self-assignment tests, we observed that individuals were correctly assigned to populations at rates of 40.54-94.12% and to the identified regions at rates of 79.80-80.62%. Both the cpDNA and STR markers appear to be useful for tracking Merbau timber originating from peninsular Malaysia. The use of these forensic tools in addition to the existing paper-based timber tracking system will help to verify the legality of the origin of I. palembanica and to combat illegal logging issues associated with the species.
    Matched MeSH terms: Gene Frequency
  7. Allele frequency distribution for 10 STR loci in the Malay population of Malaysia
    Panneerchelvam S, Haslindawaty N, Ravichandran M, Norazmi MN, Zainuddin ZF
    J Forensic Sci, 2003 Mar;48(2):451-2.
    PMID: 12665016
    Matched MeSH terms: Gene Frequency*
  8. KIR genotype and haplotype frequencies in the multi-ethnic population of Malaysia
    Kevin-Tey WF, Wen WX, Bee PC, Eng HS, Ho KW, Tan SM, et al.
    Hum Immunol, 2023 Mar;84(3):172-185.
    PMID: 36517321 DOI: 10.1016/j.humimm.2022.11.006
    Killer cell immunoglobulin-like receptors (KIR) genotype and haplotype frequencies have been reported to vary distinctly between populations, which in turn contributes to variation in the alloreactivity of natural killer (NK) cells. Utilizing the diverse KIR genes to identify suitable transplant donors would prove challenging in multi-ethnic countries, even more in resource-limited countries where KIR genotyping has not been established. In this study, we determined the KIR genotypes from 124 unrelated Malaysians consisting of the Malays, Chinese, Indians, and aboriginal people through polymerase chain reaction sequence-specific primer (PCR-SSP) genotyping and employing an expectation-maximization (EM) algorithm to assign haplotypes based on pre-established reference haplotypes. A total of 27 distinct KIR haplotypes were discerned with higher frequencies of haplotype A (55.2%) than haplotype B (44.8%). The most frequent haplotypes were cA01:tA01 (55.2%), cB01:tB01 (18.1%), and cB02:tA01 (13.3%), while the least frequent haplotypes were cB03:tB01 (1.2%), cB04:tB03 (0.4%), and cB03:tA01 (0.4%). Several haplotypes were identified to be unique to a specific ethnic group. The genotype with the highest frequency was genotype AB (71.8%), followed by AA (19.4%), and BB (8.9%). The Indians exhibited the lowest genotype AA but the highest genotype BB, whereas genotype BB was absent in the aboriginal people. Despite the limitations, the genotype and haplotypes in the Malaysian population were successfully highlighted. The identification of ethnic-specific KIR genotypes and haplotypes provides the first step to utilizing KIR in identifying suitable transplant donors to further improve the transplant outcome in the Malaysian population.
    Matched MeSH terms: Gene Frequency
  9. Killer immunoglobulin-like receptor diversity in Malay subethnic groups of Peninsular Malaysia
    NurWaliyuddin HZ, Edinur HA, Norazmi MN, Sundararajulu P, Chambers GK, Zafarina Z
    Int. J. Immunogenet., 2014 Dec;41(6):472-9.
    PMID: 25367623 DOI: 10.1111/iji.12161
    The KIR system shows variation at both gene content and allelic level across individual genome and populations. This variation reflects its role in immunity and has become a significant tool for population comparisons. In this study, we investigate KIR gene content in 120 unrelated individuals from the four Malay subethnic groups (Kelantan, Jawa, Banjar and Pattani Malays). Genotyping using commercial polymerase chain reaction-sequence-specific primer (PCR-SSP) kits revealed a total of 34 different KIR genotypes; 17 for Kelantan, 15 for Banjar, 14 for Jawa and 13 for Pattani Malays. Two new variants observed in Banjar Malays have not previously been reported. Genotype AA and haplotype A were the most common in Jawa (0.47 and 0.65, respectively), Banjar (0.37 and 0.52, respectively) and Pattani (0.40 and 0.60, respectively) Malays. In contrast, Kelantan Malays were observed to have slightly higher frequency (0.43) of genotype BB as compared with the others. Based on the KIR genes distribution, Jawa, Pattani and Banjar subethnic groups showed greater similarity and are discrete from Kelantan Malays. A principal component plot carried out using KIR gene carrier frequency shows that the four Malay subethnic groups are clustered together with other South-East Asian populations. Overall, our observation on prevalence of KIR gene content demonstrates genetic affinities between the four Malay subethnic groups and supports the common origins of the Austronesian-speaking people.
    Matched MeSH terms: Gene Frequency
  10. The pattern of HLA-A, -B and -DRB1 alleles and haplotypes of four Malay sub-ethnic groups namely Kelantan, Champa, Patani and Mandailing Malays of Peninsular Malaysia
    Allia S, Norazmi MN, Panneerchelvam S, Zafarina Z
    Hum Immunol, 2019 Jul;80(7):423-424.
    PMID: 30836128 DOI: 10.1016/j.humimm.2019.02.015
    "Bumiputra" or "son of the soil" is a term used to represent the Malays and other indigenous populations of Malaysia. The Malays are Austronesian speaking population and originated from different parts of the Indo-Malay Archipelago. The migration of Malay population from different parts of Indo-Malay Archipelago were mainly due to trading purposes which shaped the current Malay sub-ethnic groups with unique culture and with distinctive dialects. In this study, HLA typing was carried out using Sequence-based Typing (SBT) method on 109 individuals comprising of four Malay sub-ethnic groups namely Kelantan (n = 28), Champa (n = 29), Patani (n = 25) and Mandailing (n = 27) Malays. The HLA data is available in the Allele Frequencies Net Database (AFND).
    Matched MeSH terms: Gene Frequency
  11. An analysis of genetic association in opioid dependence susceptibility
    Nagaya D, Zahari Z, Saleem M, Yahaya BH, Tan SC, Yusoff NM
    J Clin Pharm Ther, 2018 Feb;43(1):80-86.
    PMID: 28656735 DOI: 10.1111/jcpt.12585
    WHAT IS KNOWN: Drug addiction is a novelty-seeking personality trait that is associated with the candidate genes OPRD1 (opioid delta receptors), OPRK1 (opioid kappa receptors) and PDYN (prodynorphin). However, associations between single nucleotide polymorphisms (SNPs) rs1042114 (80G>T) of the OPRD1 gene, rs702764 (843 A>G) of the OPRK1 gene, and rs910080 (3' UTR _743T>C), rs1997794 (5' UTR -381A>G) and rs1022563 (3' UTR) of the PDYN gene and novelty seeking remain controversial as reported results have not been reproducible.

    OBJECTIVE: The goal of this study was to determine the frequencies of SNPs rs1042114, rs702764, rs1997794, rs1022563 and rs910080 in the Malaysian population and to study their association with opioid dependence in Malaysian Malays.

    METHODS: A total of 459 Malay male with opioid dependence and 543 healthy male (controls) subjects were included in this study. SNPs were genotyped using the TaqMan SNP genotyping assay. Statistical analysis was performed using Golden Helix SVS software suite to identify the distribution of allele and genotype frequencies, and SNP-SNP interactions were also analysed in this study.

    RESULTS AND DISCUSSION: SNP rs1042114 in the OPRD1 gene is strongly associated with opiate addiction (P=.0001). In individuals homozygous for this risk allele, the likelihood of opiate addiction is increased by a factor 1.62 (95% confidence interval (CI) 1.412-1.875). Polymorphic alleles at SNP rs702764 of OPRK1 were not associated with opioid dependence. A significant association between opioid dependence and SNP rs910080 of PDYN (P=.0217) was detected, but there was no association for SNPs rs199774 and rs1022563. A significant interaction was also identified between homozygous wild-type genotype TT of rs702764 with the risk genotypes TG/GG of rs1042114 (odds ratio (OR)=2.111 (95% CI 1.227-3.631), P=.0069) and with the risk genotypes GA/AA of rs910080 (OR=1.415 (95% CI 1.04-1.912), P=.0239).

    WHAT IS NEW AND CONCLUSION: The results indicate that SNPs rs1042114 and rs910080 contribute to vulnerability to opioid dependence in the Malaysian Malay population. These results will help us to understand the effect of the SNPs and the SNP-SNP interaction on opioid dependence and may assist in efforts to screen vulnerable individuals and match them with individually tailored prevention and treatment strategies.

    Matched MeSH terms: Gene Frequency/genetics
  12. Fulltext Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy
    Boon-Peng H, Mat Jusoh JA, Marshall CR, Majid F, Danuri N, Basir F, et al.
    PLoS One, 2016;11(3):e0148755.
    PMID: 26930585 DOI: 10.1371/journal.pone.0148755
    Left ventricular hypertrophy (LVH) is an independent risk factor for cardiovascular morbidity and mortality, and a powerful predictor of adverse cardiovascular outcomes in the hypertensive patients. It has complex multifactorial and polygenic basis for its pathogenesis. We hypothesized that rare copy number variants (CNVs) contribute to the LVH pathogenesis in hypertensive patients. Copy number variants (CNV) were identified in 258 hypertensive patients, 95 of whom had LVH, after genotyping with a high resolution SNP array. Following stringent filtering criteria, we identified 208 rare, or private CNVs that were only present in our patients with hypertension related LVH. Preliminary findings from Gene Ontology and pathway analysis of this study confirmed the involvement of the genes known to be functionally involved in cardiac development and phenotypes, in line with previously reported transcriptomic studies. Network enrichment analyses suggested that the gene-set was, directly or indirectly, involved in the transcription factors regulating the "foetal cardiac gene programme" which triggered the hypertrophic cascade, confirming previous reports. These findings suggest that multiple, individually rare copy number variants altering genes may contribute to the pathogenesis of hypertension-related LVH. In summary, we have provided further supporting evidence that rare CNV could potentially impact this common and complex disease susceptibility with lower heritability.
    Matched MeSH terms: Gene Frequency
  13. Phosphoglucomutase polymorphism in the oriental fruit fly, Dacus dorsalis (Diptera, Tephritidae) from Peninsular Malaysia
    Yong HS
    Comp. Biochem. Physiol., B, 1984;78(2):321-3.
    PMID: 6236032
    Seven natural populations of Dacus dorsalis were analysed for phosphoglucomutase by means of horizontal starch-gel electrophoresis. The electrophoretic phenotypes were governed by four codominant Pgm alleles. The commonest allele in all the seven population samples was PgmB which encoded an electrophoretic band with intermediate mobility. The distributions of PGM phenotype were in accordance with Hardy-Weinberg expectations. There was geographic variation in the distribution of Pgm alleles.
    Matched MeSH terms: Gene Frequency
  14. Some enzyme polymorphisms in Malaysian mothers and their newborn
    Yip MY, Dhaliwal SS, Yong HS
    Hum. Hered., 1979;29(1):5-9.
    PMID: 761922
    Four red cell enzyme systems were studied in Malaysian mothers and their newborn belonging to three racial groups, the Malays, Indians and Chinese. No significant heterogeneity was observed in the distribution of phosphoglucomutase (PGM1), adenosine deaminase (ADA), 6-phosphogluconate dehydrogenase (6PGD) and acid phosphatase (AP) phenotypes between mothers and their newborn of the three groups. Pooled mother and child acid phosphatase data show a significant heterogeneity between the Malays and Chinese, and between the Malays and Indians. This is comparable to previous studies conducted. For the placental phosphoglucomutase (PGM3) system, a significant heterogeneity was observed between the Chinese and Malays only. No significant heterogeneity was detected in the distribution of PGM1, ADA and 6PGD phenotypes among Malays, Chinese and Indians.
    Matched MeSH terms: Gene Frequency*
  15. Fulltext Association of Fat Mass and Obesity-Associated (FTO) gene rs9939609 variant with obesity among multi-ethnic Malaysians in Kampar, Perak
    Wei-Wei Chey, Sook-Ha Fan, Yee-How Say
    Sains Malaysiana, 2013;42(3):365-371.
    Obesity is a multifactorial disease caused by the interaction of genetic, lifestyle and environmental factors. Common single nucleotide polymorphisms in the recently-described Fat Mass and Obesity-Associated (FTO) gene have been related to body weight and fat mass in humans and genome-wide association studies in several populations have indicated that the FTO rs9939609 variant is associated with obesity. Therefore, the objective of this study was to investigate the association of the FTO rs9939609 variant with obesity among 324 multi-ethnic Malaysians (98 Malays, 158 Chinese, 68 Indians) who attended the Kampar Health Clinic, Perak. With the overall minor A allele frequency (MAF) of 0.199, the distribution of genotypes and alleles was significantly different among ethnicities (MAF highest among Malays), but no association was found for obesity, related anthropometric measurements and gender. Subject with allele A had marginally but significantly higher waist circumference (p=0.015), thus the FTO rs9939609 allele was associated with central obesity [p=0.034 by Chi-square analysis; Odds Ratio (OR)=1.680 (CI=1.036, 2.724; p=0.035)]. However, this association was abolished when adjusted for age, gender and ethnicity (OR=1.455, CI=0.874, 2.42; p=0.149). In conclusion, the MAF of the FTO rs9939609 SNP was low as in other Asian populations and there was no evidence for an involvement of this SNP in obesity and obesity-related traits in this multi-ethnic Malaysian study group.
    Matched MeSH terms: Gene Frequency
  16. HLA-A*11 and novel associations in Malays and Chinese with systemic lupus erythematosus
    Mohd-Yusuf Y, Phipps ME, Chow SK, Yeap SS
    Immunol Lett, 2011 Sep 30;139(1-2):68-72.
    PMID: 21658414 DOI: 10.1016/j.imlet.2011.05.001
    We investigated the association of the HLA genes in Malaysian patients with systemic lupus erythematosus (SLE) and their associations with the clinical manifestations in 160 SLE patients (99 Chinese and 61 Malays) and 107 healthy control individuals (58 Chinese and 49 Malays) were studied. Sequence specific primer amplification (PCR-SSP) phototyping techniques were used to analyse 25 HLA-A allele groups, 31 HLA-DR allele groups and 9 HLA-DQ allele groups. Appreciable increases in allele frequencies of HLA-A*11, DRB1*0701, DRB1*1601-1606, DRB5*01-02 and DQB1*05, and decrease in HLA-DRB1*1101-1121, 1411, DRB1*1201-3, DRB1*1301-22, DRB3*0101, 0201, 0202, 0203, 0301 and DQB1*0301, 1304 in SLE patients compared with healthy control individuals. However, after Bonferroni correction (p(c)<0.05) only HLA-A*1101, 1102, DRB5*01-02, DQB1*05, DRB1*1201-3, DRB3*0101, 0201, 0202, 0203, 0301 and DQB1*0301, 0304 remained significant. Allele frequencies of DRB1*0701 and DRB4*0101101, 0102, 0103, DQB1*05, DRB1*1301-22, DRB3*0101, 0201, 0202, 0203, 0301 and DQB1*0301, 0304 were significantly increased in Malay SLE patients compared with healthy control individuals. In contrast, Chinese SLE patients had increased allele frequencies of DRB1*1601-1606, DQB1*05, DRB1*1201-3, DRB3*0101, 0201, 0202, 0203, 0301, DRB3*0101, 0201, 0202, 0203, 0301 and DQB1*0301, 0304 compared with healthy control individuals. HLA-A*6801-02 and DRB1*1601-1606 frequencies appeared elevated in a subset of patients with serositis and DRB1* 0401-1122 frequency was elevated in those displaying neurologic disorder. However, unequivocal evidence of these associations would require investigation of substantially larger cohorts. On the whole, our findings suggest that HLA allele associations with SLE are race specific in Malays and Chinese.
    Study site: SLE clinic, University of Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
    Matched MeSH terms: Gene Frequency
  17. Detection of virulence genes in Malaysian Shigella species by multiplex PCR assay
    Thong KL, Hoe SL, Puthucheary SD, Yasin R
    BMC Infect Dis, 2005 Feb 14;5:8.
    PMID: 15707504
    In Malaysia, Shigella spp. was reported to be the third commonest bacterial agent responsible for childhood diarrhoea. Currently, isolation of the bacterium and confirmation of the disease by microbiological and biochemical methods remain as the "gold standard". This study aimed to detect the prevalence of four Shigella virulence genes present concurrently, in randomly selected Malaysian strains via a rapid multiplex PCR (mPCR) assay.
    Matched MeSH terms: Gene Frequency/genetics
  18. Fulltext Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country
    Thong MK, Tan JA, Tan KL, Yap SF
    J Trop Pediatr, 2005 Dec;51(6):328-33.
    PMID: 15967770 DOI: 10.1093/tropej/fmi052
    beta-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the most common single gene disorders in multi-racial Malaysia. The control of beta-thalassaemia major requires a multi-disciplinary approach that includes population screening, genetic counselling, prenatal diagnosis and the option of termination of affected pregnancies. To achieve this objective, the molecular characterisation of the spectrum of beta-globin gene mutations in each of the affected ethnic groups is required. We studied 88 consecutive unrelated individuals and their respective families with beta-thalassaemia (74 beta-thalassaemia major, 12 HbE-beta-thalassaemia, 2 with HbE homozygotes) and four individuals with beta-thalassaemia trait that contributed a total 180 alleles for study. Using a 2-step molecular diagnostic strategy consisting of amplification refractory mutation system (ARMS) to identify the 8 most common mutations followed by other DNA-based diagnostic techniques, a total of 177 (98.3 per cent) of the 180 beta-thalassaemia alleles were characterised. One out of 91 (1 per cent) of the Chinese alleles, one out of 46 (2.2 per cent) Malay alleles and one out of two Indian alleles remained unknown. A 100 per cent success rate was achieved in studying the Kadazandusun community in this study. A strategy to identify beta-globin gene mutations in Malaysians with beta-thalassaemia is proposed based on this outcome.
    Matched MeSH terms: Gene Frequency
  19. Polymorphism studies of four miniSTR loci for three ethnic populations in Singapore
    Yong RY, Gan LS, Coble MD, Yap EP
    Leg Med (Tokyo), 2007 Sep;9(5):278-81.
    PMID: 17467323
    MiniSTR loci has demonstrated to be an effective approach to recover genetic information from degraded sample, due to the improved PCR efficiency of their reduced PCR amplicon sizes. This study constructed a partial miniSGM panel and investigated the performance of four miniSTR loci, D2S1338, D16S539, D18S51 and FGA, in three ethnic populations residing in Singapore. The suitability of the miniSTR primers for Singapore populations was assessed for loci D16S539, D18S51 and FGA.
    Matched MeSH terms: Gene Frequency
  20. Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations
    Yong RY, Gan LS, Chang YM, Yap EP
    Hum Genet, 2007 Nov;122(3-4):237-49.
    PMID: 17588179
    Amelogenin paralogs on Chromosome X (AMELX) and Y (AMELY) are commonly used sexing markers. Interstitial deletion of Yp involving the AMELY locus has previously been reported. The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened. The null allele in this study belongs to 3 Y haplogroups; J2e1 (85.7%), F* (9.5%) and D* (4.8%). Low and high-resolution STS mapping, followed by sequence analysis of breakpoint junction confirmed a large deletion of 3 to 3.7-Mb located at the Yp11.2 region. Both breakpoints were located in TSPY repeat arrays, suggesting a non-allelic homologous recombination (NAHR) mechanism of deletion. All regional null samples shared identical breakpoint sequences according to their haplogroup affiliation, providing molecular evidence of a common ancestry origin for each haplogroup, and at least 3 independent deletion events recurred in history. The estimated ages based on Y-SNP and STR analysis were approximately 13.5 +/- 3.1 kyears and approximately 0.9 +/- 0.9 kyears for the J2e1 and F* mutations, respectively. A novel polymorphism G > A at Y-GATA-H4 locus in complete linkage disequilibrium with J2e1 null mutations is a more recent event. This work re-emphasizes the need to include other sexing markers for gender determination in certain regional populations. The frequency difference among global populations suggests it constitutes another structural variation locus of human chromosome Y. The breakpoint sequences provide further information to a better understanding of the NAHR mechanism and DNA rearrangements due to higher order genomic architecture.
    Matched MeSH terms: Gene Frequency
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