Displaying publications 1 - 20 of 62 in total

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  1. Erythrocytic glucose-6-phosphate dehydrogenase (G6PD) deficiency
    Wong HB
    Family Practitioner, 1983;6:23-28.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency
  2. Favism and glucose-6-phosphate dehydrogenase deficiency
    Winterbourn CC, Cheah FC
    N Engl J Med, 2018 03 15;378(11):1067-8.
    PMID: 29542310 DOI: 10.1056/NEJMc1801271
    Comment on: Luzzatto L, Arese P. Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
    N Engl J Med. 2018 Jan 4;378(1):60-71. Review. PubMed PMID: 29298156.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency*
  3. Glucose-6-phosphate dehydrogenase (G6PD)-deficient infants: Enzyme activity and gene variants as risk factors for phototherapy in the first week of life
    Wong FL, Ithnin A, Othman A, Cheah FC
    J Paediatr Child Health, 2017 Jul;53(7):705-710.
    PMID: 28376293 DOI: 10.1111/jpc.13509
    AIM: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a recognised cause of severe neonatal hyperbilirubinaemia, and identifying which infants are at risk could optimise care and resources. In this study, we determined if G6PD enzyme activity (EA) and certain gene variants were associated with neonatal hyperbilirubinaemia requiring phototherapy during the first week after birth.
    METHODS: Newborn infants with G6PD deficiency and a group with normal results obtained by the fluorescent spot test were selected for analyses of G6PD EA and the 10 commonly encountered G6PD mutations in this region, relating these with whether the infants required phototherapy before discharge from the hospital in the first week.
    RESULTS: A total of 222 infants with mean gestation and birth weight of 38.3 ± 1.8 weeks and 3.02 ± 0.48 kg, respectively, were enrolled. Of these, n = 121 were deficient with EA ≤6.76 U/g Hb, and approximately half (43%) received phototherapy in the first week after birth. The mean EA level was 3.7 U/g Hb. The EA had good accuracy in predicting phototherapy use, with area under the receiver-operating-characteristic curve of 0.81 ± 0.05. Infants on phototherapy more commonly displayed World Health Organization Class II mutations (<10% residual EA). Logistic regression analysis showed that deficiency in EA and mutation at c.1388G>A (adjusted odds ratio, 1.5 and 5.7; 95% confidence interval: 1.31-1.76 and 1.30-25.0, respectively) were independent risk factors for phototherapy.
    CONCLUSION: Low G6PD EA (<6.76 U/g Hb) and the G6PD gene variant, c.1388G>A, are risk factors for the need of phototherapy in newborn infants during the first week after birth.
    Study site: Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency*
  4. Fulltext A freeze-dried method for preparation of G6PD reagent tubes
    Cheong SK, Lim YC, Mok KL
    Malays J Pathol, 1991 Jun;13(1):51-2.
    PMID: 1795563
    Mixed reagents for the Glucose-6-phosphate dehydrogenase (G6PD) deficiency fluorescent screening test were freeze-dried in plastic tubes. The reagents were then reconstituted with distilled water and the test was performed in the usual way. Initial testing with the freeze-dried mixed reagents gave consistent positive reaction to 12 normal blood samples and negative reaction to 9 G6PD deficient blood samples. This will enable a laboratory with freeze-drying facilities to prepare reagent tubes in bulk. As these tubes can be kept at 4 degrees C and do not require to be stored at -20 degrees C, a major laboratory can prepare these tubes and supply small laboratories for screening purposes.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*
  5. Screening for G. 6-P.D. deficiency
    Robinson MJ, Lau KS, Lin HP, Chan GL
    Med J Malaysia, 1976 Jun;30(4):287-90.
    PMID: 979730
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*
  6. Glucose-6-phosphate dehydrogenase deficiency in Brunei, Sabah and Sarawak
    Lie-Injo LE, Chin J, Ti TS
    Ann. Hum. Genet., 1964 Nov;28:173-6.
    PMID: 14228004 DOI: 10.1111/j.1469-1809.1964.tb00472.x
    A total of 1008 healthy unrelated young adult male police and military recruits, 317 from Brunei, 398 from Sabah and 293 from Sarawak, were examined for G-6-PD deficiency. The frequency in the 317 Brunei recruits, who were all of Malay origin, was 6.3 %. In Sabah the frequencies for the four main ethnic groups were 12.1 % in 165 Kadazans, 4.1% in 73 Malays, 3.4 % in 68 Bajaus and 24.2 % in 33 Muruts. In Sarawak the frequency was 11.6 % in 95 recruits of Malay origin. Three among 56 Ibans and one among 80 Sea Dayaks were found to be enzyme-deficient, but the numbers examined of these groups were too small for estimation of the frequency. The overall frequency for the Malay group in Brunei, Sabah and Sarawak was 7.0% in 485 persons examined.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency*
  7. Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns
    Nadarajan V, Shanmugam H, Sthaneshwar P, Jayaranee S, Sultan KS, Ang C, et al.
    Int J Lab Hematol, 2011 Oct;33(5):463-70.
    PMID: 21501392 DOI: 10.1111/j.1751-553X.2011.01309.x
    INTRODUCTION:
    The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes.

    METHODS:
    A total of 1266 cord blood samples (705 male, 561 female) were screened for G6PD deficiency using FST (in-house method) and a quantitative enzyme assay. Fluorescence intensity of the FST was graded as either absent, intermediate or normal. Samples identified as showing absent or intermediate fluorescence on FST were analysed for the presence of G6PD mutations using TaqMan@SNP genotyping assays and direct nucleotide sequencing.

    RESULTS:
    Of the 1266 samples, 87 samples were found to be intermediate or deficient by FST (49 deficient, 38 intermediate). Of the 49 deficient samples, 48 had G6PD enzyme activity of ≤ 9.5 U/g Hb and one sample had normal enzyme activity. All 38 intermediate samples were from females. Of these, 21 had G6PD activity of between 20% and 60%, and 17 samples showed normal G6PD activity. Twenty-seven of the 38 samples were available for mutation analysis of which 13 had normal G6PD activity. Eleven of the 13 samples with normal G6PD activity had identifiable G6PD mutations.

    CONCLUSION:
    Glucose-6-phosphate dehydrogenase heterozygote females cannot be identified by FST if fluorescence is reported as absent or present. Distinguishing samples with intermediate fluorescence from absent and bright fluorescence improves detection of heterozygote females with mild G6PD deficiency. Mutational studies confirmed that 85% of intermediate samples with normal enzyme activity had identifiable G6PD mutations.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*; Glucosephosphate Dehydrogenase Deficiency/genetics*; Glucosephosphate Dehydrogenase Deficiency/metabolism
  8. Enzyme activity of glucose-6-phosphate dehydrogenase-deficient Malaysian neonates during the first 10 days of life
    Boo NY, Ainoon O, Arif ZA, Cheong SK, Haliza MS
    J Paediatr Child Health, 1995 Feb;31(1):44-6.
    PMID: 7748690
    OBJECTIVE: The objective of this study was to determine the degree of severity of enzyme deficiency in glucose-6-phosphate dehydrogenase (G6PD)-deficient Malaysian neonates as part of an effort to identify risk factors associated with severe hyperbilirubinaemia in G6PD-deficient infants.

    METHODOLOGY: During this study, enzyme activity was measured in 53/59 (89.8%) hospital-diagnosed G6PD-deficient neonates (34 Malays, 12 Chinese, and seven other ethnic groups) born consecutively in the Kuala Lumpur Maternity Hospital. All neonates, except one, were males.

    RESULTS: The mean level of enzyme activity of the 52 males G6PD-deficient neonates (0.47 iu/g Hb, 95% confidence intervals: 0.37, 0.57) was less than 10% of that of normal Malaysian male neonates. The enzyme activity of the only female G6PD-deficient infant, at 1.11 iu/g Hb, was 12.5% of the mean G6PD enzyme activity of normal females.

    CONCLUSION: Our results showed that G6PD deficiency in Malaysian neonates predominantly affects males and is usually severe.

    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/complications; Glucosephosphate Dehydrogenase Deficiency/enzymology*; Glucosephosphate Dehydrogenase Deficiency/ethnology
  9. Fulltext Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation
    Singh H
    Br Med J (Clin Res Ed), 1986 Feb 08;292(6517):397-8.
    PMID: 3080188 DOI: 10.1136/bmj.292.6517.397
    Over two years cord blood from 27 879 babies was screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The overall incidence was 3.1% in boys and 1.6% in girls. Sixty nine babies had severe jaundice (bilirubin concentration greater than 380 mmol/l (20 mg/100 ml], and exchange transfusion was performed. Parents were given written and verbal instructions to avoid herbs and drugs that trigger kernicterus, which reduced the incidence of kernicterus and thereby prevented mental retardation. G6PD deficiency is common in all three ethnic groups (Malays, Chinese, and Indians) in Malaysia and screening is recommended.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
  10. Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak
    Ganesan J, Lie-Injo LE, Ong Beng P
    Hum. Hered., 1975;25(4):258-62.
    PMID: 1184011 DOI: 10.1159/000152733
    A survey of abnormal hemoglobins, G6PD deficiency and hereditary ovalocytosis was carried out among the Dayaks of Sarawak. The only abnormal hemoglobin found was Hb Co Sp, which occurred in 0.35% of the Land Dayaks and 0.83% of the Sea Dayaks. G6PD deficiency occurred in 5.3% of the male Land Dayaks and 5.0% of the male Sea Dayaks; no electrophoretic variant of G6PD was found in any of the 285 Land Dayaks and 240 Sea Dayaks examined. Hereditary ovalocytosis was found in 12.7% of the Land Dayaks and 9.0% of the Sea Dayaks.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
  11. Fulltext Does glucose-6-phosphate dehydrogenase deficiency modify the course of leprosy or its treatment
    Pettit JHS, Chin J
    Lepr Rev, 1964 Jul;35(4):149-56.
    PMID: 14177689
    In a survey of over 1,000 patients with leprosy, 47 cases ( 4.4 per cent) were found to have glucose-6-phosphate dehydrogenase deficiency. A controlled clinical study suggests that such a deficiency does not modify the overall response to therapy but may predispose to a greater tendency to leprosy reactions. All patients were receiving 600 to 800 mgm. of sulphone per week and none had a frank haemolytic anaemia.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency*
  12. Prevalence of erythrocyte G6PD deficiency in Sabah
    Fong T
    Mod Med Asia, 1977 Sep;13(9):14-6.
    PMID: 340882
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
  13. Glucose-6-phosphate dehydrogenase deficiency in Malayans
    Lie-Injo LE, TI TS
    Trans R Soc Trop Med Hyg, 1964 Nov;58:500-2.
    PMID: 14217007 DOI: 10.1016/0035-9203(64)90105-1
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency*
  14. Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient
    Prayongratana K, Viprakasit V
    Blood Cells Mol. Dis., 2019 11;79:102347.
    PMID: 31323480 DOI: 10.1016/j.bcmd.2019.102347
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/genetics*
  15. Fulltext Nine different glucose-6-phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds
    Wang J, Luo E, Hirai M, Arai M, Abdul-Manan E, Mohamed-Isa Z, et al.
    Acta Med. Okayama, 2008 Oct;62(5):327-32.
    PMID: 18985093
    The Malaysian people consist of several ethnic groups including the Malay, the Chinese, the Indian and the Orang Asli (aboriginal Malaysians). We collected blood samples from outpatients of 2 hospitals in the State of Selangor and identified 27 glucose-6-phosphate dehydrogenase (G6PD)-deficient subjects among these ethnic groups. In the Malay, G6PD Viangchan (871GA, 1311CT, IVS11 nt93TC) and G6PD Mahidol (487GA) types, which are common in Cambodia and Myanmar, respectively, were detected. The Malay also had both subtypes of G6PD Mediterranean:the Mediterranean subtype (563CT, 1311CT, IVS11 nt93TC) and the Indo-Pakistan subtype (563CT, 1311C, IVS11 nt93T). In Malaysians of Chinese background, G6PD Kaiping (1388GA), G6PD Canton (1376GT) and G6PD Gaohe (95AG), which are common in China, were detected. Indian Malaysians possessed G6PD Mediterranean (Indo-Pakistan subtype) and G6PD Namoru (208TC), a few cases of which had been reported in Vanuatu and many in India. Our findings indicate that G6PD Namoru occurs in India and flows to Malaysia up to Vanuatu. We also discovered 5 G6PD-deficient cases with 2 nucleotide substitutions of 1311CT and IVS11 nt93TC, but without amino-acid substitution in the G6PD molecule. These results indicate that the Malaysian people have incorporated many ancestors in terms of G6PD variants.
    Study site: Kajang District Hospital and the Hospital Orang Asli Gombak, Selangor, Malaysia
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/blood; Glucosephosphate Dehydrogenase Deficiency/ethnology; Glucosephosphate Dehydrogenase Deficiency/genetics*
  16. G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia
    Ainoon O, Boo NY, Yu YH, Cheong SK, Hamidah HN
    Hematology, 2006 Apr;11(2):113-8.
    PMID: 16753852 DOI: 10.1080/10245330500155184
    A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis; Glucosephosphate Dehydrogenase Deficiency/genetics*; Glucosephosphate Dehydrogenase Deficiency/epidemiology
  17. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays
    Ainoon O, Yu YH, Amir Muhriz AL, Boo NY, Cheong SK, Hamidah NH
    Hum Mutat, 2003 Jan;21(1):101.
    PMID: 12497642 DOI: 10.1002/humu.9103
    We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 26.7% were nt 563 C>T (G6PD Mediterranean) and 15.1% were 487G>A (G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PD Vanua Lava), 3.5% 592C>T (G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3% 1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham), 1.2% 131C>G (G6PD Orissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis; Glucosephosphate Dehydrogenase Deficiency/ethnology; Glucosephosphate Dehydrogenase Deficiency/genetics*
  18. Fulltext Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially-deficient females
    Ainoon O, Alawiyah A, Yu YH, Cheong SK, Hamidah NH, Boo NY, et al.
    Southeast Asian J. Trop. Med. Public Health, 2003 Jun;34(2):405-14.
    PMID: 12971572
    Neonatal screening for G6PD deficiency has long been established in many countries. The aim of the study was to determine whether the routine semiquantitative fluorescent spot test could detect all cases of G6PD deficiency, including those cases with partial deficiency (residual red cell G6PD activity between 20-60% of normal). We compared the results of G6PD screening by the semiquantitative fluorescent spot test and quantitative G6PD activity assay on a group of 976 neonates and 67 known female heterozygotes. The values for mean G6PD activity of G6PD-normal neonates and 293 healthy adult females were determined. There was no significant difference in the mean normal G6PD activity between the two racial groups in the neonates (669 Malays, 307 Chinese) and in the 293 healthy adult females (150 Malays, 143 Chinese) group. The values for the upper limits of total deficiency (20% of normal residual activity) for neonates and adult females were 2.92 U/gHb and 1.54 U/gHb, respectively. The upper limits of partial deficiency (60% of normal residual activity) were 8.7 U/gHb and 4.6 U/gHb respectively. The prevalence of G6PD deficiency among the male neonates was 5.1% (26) by both the fluorescent spot test and the enzyme assay method. The G6PD activity levels of all 26 cases of G6PD-deficient male neonates were < 20% normal (severe enzyme deficiency). In the female neonate group, the frequency of G6PD deficiency was 1.3% (6 of 472) by the fluorescent spot test and 9.35% (44 of 472) by enzyme assay. The 6 cases diagnosed as deficient by the fluorescent spot test showed severe enzyme deficiency (< 2.92 U/gHb). The remaining 38 female neonates had partial enzyme deficiency and all were misdiagnosed as normal by the fluorescent spot test. In the female heterozygote group, G6PD deficiency was diagnosed in 53% (35 of 67) by enzyme assay and in 7.5% (4 of 67) of cases by the fluorescent spot test. The 4 cases detected by fluorescent spot test had severe enzyme deficiency (<1.6 U/gHb). The remaining 31 (46.3%) cases, diagnosed as normal by fluorescent spot test, showed partial G6PD deficiency. In conclusion, we found that the semiquantitative fluorescent spot test could only diagnose cases of total G6PD deficiency and misclassified the partially-deficient cases as normal. In this study, the overall prevalence of G6PD deficiency was 3.28% by the semiquantitative fluorescent spot test and 7.17% by enzyme assay. This means that 3.9% of G6PD-deficient neonates were missed by the routine fluorescent spot test and they were found to be exclusively females. This study demonstrates a need to use a method that can correctly classify female heterozygotes with partial G6PD deficiency. The clinical implication is that these individuals may be at risk of the hemolytic complication of G6PD deficiency.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/blood*; Glucosephosphate Dehydrogenase Deficiency/genetics; Glucosephosphate Dehydrogenase Deficiency/epidemiology
  19. Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
    Iwai K, Hirono A, Matsuoka H, Kawamoto F, Horie T, Lin K, et al.
    Hum Genet, 2001 Jun;108(6):445-9.
    PMID: 11499668
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a heterogeneous enzyme abnormality with high frequency in tropical areas. We performed population screening and molecular studies of G6PD variants to clarify their distribution and features in Southeast Asia. A total of 4317 participants (2019 males, 2298 females) from 16 ethnic groups in Myanmar, Lao in Laos, and Amboinese in Indonesia were screened with a single-step screening method. The prevalence of G6PD-deficient males ranged from 0% (the Akha) to 10.8% (the Shan). These G6PD-deficient individuals and 12 G6PD-deficient patients who had been diagnosed at hospitals in Indonesia and Malaysia were subjected to molecular analysis by a combination of polymerase-chain-reaction-based single-strand conformation polymorphism analysis and direct sequencing. Ten different missense mutations were identified in 63 G6PD-deficient individuals (50 hemizygotes, 11 heterozygotes, and 2 homozygotes) from 14 ethnic groups. One missense mutation (1291 G-->A) found in an Indonesian Chinese, viz., G6PD Surabaya, was previously unknown. The 487 G-->A (G6PD Mahidol) mutation was widely seen in Myanmar, 383 T-->C (G6PD Vanua Lava) was specifically found among Amboinese, 871 G-->A (G6PD Viangchan) was observed mainly in Lao, and 592 C-->T (G6PD Coimbra) was found in Malaysian aborigines (Orang Asli). The other five mutations, 95 A-->G (G6PD Gaohe), 1003 G-->A (G6PD Chatham), 1360 C-->T (G6PD Union), 1376 G-->T (G6PD Canton), and 1388 G-->A (G6PD Kaiping) were identified mostly in accordance with distributions reported previously.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/enzymology; Glucosephosphate Dehydrogenase Deficiency/genetics*; Glucosephosphate Dehydrogenase Deficiency/epidemiology
  20. Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli
    Amini F, Ismail E, Zilfalil BA
    Intern Med J, 2011 Apr;41(4):351-3.
    PMID: 21507164 DOI: 10.1111/j.1445-5994.2011.02456.x
    This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9% (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7 IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/ethnology*; Glucosephosphate Dehydrogenase Deficiency/genetics*; Glucosephosphate Dehydrogenase Deficiency/epidemiology
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