Three major G6PD‐deficient polymorphic variants identified among the Mauritian population

Kotea, R.; Kaeda, Jaspal; Yan, Solange Lee Kwai; Fa, Nathalie Sem; Beesoon, Sanjay; Jankee, S.; Ramasawmy, R.; Vulliamy, Thomas J.; Bradnock, Robert W.; Bautista, José M.; Luzzatto, Lucio; Krishnamoorthy, Rajagopal; Mason, Philip J.

doi:10.1046/j.1365-2141.1999.01230.x

Cited by 22 publications

(14 citation statements)

References 20 publications

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“…We have also found G6PD Mahidol in two Indian males in Myanmar. Although this mutation has been reported in an Indian immigrant in Mauritius (Kotea et al 1999), it has never been documented on the Indian subcontinent (Kaeda et al 1995). We consider that the G6PD Mahidol mutation in the Indians in Myanmar may have occurred independently in India, because intermarriage between Indians and other ethnic groups in Myanmar is rare.…”

Section: Discussionmentioning

confidence: 95%

Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

et al. 2001

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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.

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Section: Discussionmentioning

confidence: 95%

Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

et al. 2001

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“…In addition, six other variants were found but at much lower frequencies: G6PD Vanua Lava 383 T>C (3.4%), G6PD Coimbra 592 C>T (3.4%), G6PD Union 1360 C>T (2.3%), G6PD Chatham 1003 G>A (2.3 %), G6PD Orissa 131 C>T (1.2%) and G6PD Andalus 1361 G>A (1.2%). All these alleles have previously been found in many other populations (Ganczakowski et al, 1995;Corcoran et al, 1992;Iwai et al, 2001;Hsia et al, 1993;Hirono et al, 1995;Vulliamy et al, 1988;Kaeda et al, 1995 andKotea et al, 1999) and it is difficult to speculate their origin. The data on these mutations which occur at low frequencies in the Malay population may be due to the different ancestral contributions to the present gene pool in multi-ethnic Malaysia or they could have arisen independently, as in various other populations.…”

Section: G6pd Mutations and The Anthropological Significancementioning

confidence: 93%

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

Ainoon

Joyce

et al. 2002

Hum. Mutat.

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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.

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“…While the study did not quantitatively assess G6PD deficiency, other studies have found these mutations to be associated with ~10% [37], ~20% [37] and <10% [38] normal enzymatic activity, respectively. Across the wider Indian subcontinent, the G6PD variants Mediterranean, Gond and Kerala-Kalyan are widely distributed (although not common in any location) while the Orissa variant is found predominantly in eastern and southern India [37, 39–44]. The Kerala-Kalyan variant has also been reported in individuals in southern Myanmar [18], Thailand (Phuket) and Mauritius [44].…”

Section: Discussionmentioning

confidence: 99%

“…Across the wider Indian subcontinent, the G6PD variants Mediterranean, Gond and Kerala-Kalyan are widely distributed (although not common in any location) while the Orissa variant is found predominantly in eastern and southern India [37, 39–44]. The Kerala-Kalyan variant has also been reported in individuals in southern Myanmar [18], Thailand (Phuket) and Mauritius [44]. The genetic marker backgrounds in this study were also consistent with previous studies; the Kerala-Kalyan variant was linked to the 1311C/IVSXI C93T haplotype background and the Orissa variant to the 1311C>T/IVSXI C93 background.…”

Section: Discussionmentioning

confidence: 99%

Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria

Plewes

Soontarawirat

Ghose

et al. 2017

Malar J

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BackgroundControl of malaria increasingly involves administration of 8-aminoquinolines, with accompanying risk of haemolysis in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Few data on the prevalence and genotypic basis of G6PD deficiency are available from Bangladesh, where malaria remains a major problem in the South (Chittagong Division). The aim of this study was to determine the prevalence of G6PD deficiency, and associated G6PD genotypes, in adults with falciparum malaria in southern Bangladesh.MethodsG6PD status was assessed via a combination of fluorescent spot testing (FST) and genotyping in 141 Bengali patients admitted with falciparum malaria to two centres in Chittagong Division from 2012 to 2014. In addition, an analysis of genomic data from 1000 Genomes Project was carried out among five healthy Indian subcontinent populations.ResultsOne male patient with uncomplicated malaria was found to have G6PD deficiency on FST and a genotype associated with deficiency (hemizygous Orissa variant). In addition, there were two female patients heterozygous for deficiency variants (Orissa and Kerala-Kalyan). These three patients had a relatively long duration of symptoms prior to admission compared to G6PD normal cases, possibly suggesting an interaction with parasite multiplication rate. In addition, one of 27 healthy local controls was deficient on FST and hemizygous for the Mahidol variant of G6PD deficiency. Examination of 1000 Genomes Project sequencing data across the Indian subcontinent showed that 19/723 chromosomes (2.63%) carried a variant associated with deficiency. In the Bengali from Bangladesh 1000 Genomes population, three of 130 chromosomes (2.31%) carried deficient alleles; this included single chromosomes carrying the Kerala-Kalyan and Orissa variants.ConclusionsIn line with other recent work, G6PD deficiency is uncommon in Bengalis in Bangladesh. Further studies of particular ethnic groups are needed to evaluate the potential risk of wide deployment of primaquine in malaria control efforts in Bangladesh.

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Three major G6PD‐deficient polymorphic variants identified among the Mauritian population

Cited by 22 publications

References 20 publications

Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria

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