Definition of the Mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD ‘Lejeune’

Beutler, Ernest; Westwood, Beryl; Kühl, W

doi:10.1159/000204830

Cited by 42 publications

(13 citation statements)

References 11 publications

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“…The nt 871 mutation had been identified in a single Asian Indian sub ject with G6PD Jammu and in a single Laotian with G6PD Viangchan. These mutations were found to exist in association with different haplotypes as defined by nt 1311, and were therefore thought to have had an independent origin [11], The haplotype of subjects with the 871A mutation in this study were like those of the Laotian with G6PD Viangchan. The muta tion at nt 1388 has been found previously in a number of different variants both from China and Japan, formerly thought to be distinct [10].…”

Section: Discussionsupporting

confidence: 47%

“…Although sequence analysis has by now been carried out on a considerable number of subjects from the Mediterranean region [4,5] and from Africa [6][7][8], fewer G6PD-deficient Orientals have been studied [9][10][11][12], Hawaii serves as a melting pot for many Oriental and Occidental populations, and we have now carried out sequence analysis [13] on the DNA of 13 G6PD-deficicnt, male subjects from Hawaii, 6 of Filipino, 6 of Laotian and 1 of Chinese ancestry.…”

Section: Introductionmentioning

confidence: 99%

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Glucose-6-Phosphate Dehydrogenase Variants in Hawaii

Beutler

Westwood²,

Kühl³

et al. 1992

Hum Hered

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Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A→T at cDNA nt 835, G→A at nt 871, C→T at nt 1360, and G→A at nt 1388. The mutations at nt 835 and nt 1360 have not been described previously, and the latter, in particular, appears to be relatively common. The nt 1360 mutation changes the same codon as is altered in a previously described mutation, G6PD Andalus.

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Section: Discussionsupporting

confidence: 47%

Section: Introductionmentioning

confidence: 99%

Glucose-6-Phosphate Dehydrogenase Variants in Hawaii

Beutler

Westwood²,

Kühl³

et al. 1992

Hum Hered

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“…>gi|215769502|dbj|AB376963.1| Homo sapiens G6PD gene for glucose-6-phosphate dehydrogenase variant, exon 8, partial cds Origins: Jammu, India; Gifu, Japan (Beutler et al, 1991).…”

Section: China Nt487(g>a) Mahidolmentioning

confidence: 99%

“…Moreover, G6PD Defi ciency is now known to be slightly more common than previously thought in women though the symptoms are generally not as severe unless both X-chromosomes are affected. When it was discovered that G6PD Deficiency was a genetic disorder by Beutler et al (1991) it wasthought to be a recessive disorder. Since women have two copies of the X-chromosome, they believed women would not be affected unless both chromosomes had the G6PD Deficiency mutation.…”

Section: Introductionmentioning

confidence: 99%

Phylogeny and Origin of Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency Mutations in Indonesia

Omega

Barnard

2015

IJBiotech

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The aim of this study is to analyze the relationship between the types of G6PD mutations found in Indonesia and the relationships of mutations found in Indonesia to those found in other countries. We summarize the distribution of G6PDs in West Indonesia and East Indonesia. Moreover, we use bioinformatics methods to construct phylogenetic trees and compare the sequences containing the regions amplifi ed by the commonly used PCR primer pairs. Previous work has shown that Mediterranean G6PD and Chinese CoimbraG6PD are distributed in West Indonesia, whilst G6PD mutations in East Indonesia are Jammu/ViangchanG6PD and Chinese Gaohe G6PD. G6PD Jammu/Viangchan was mostly distributed in Flores Island, East Indonesia along with G6PDGaohe. We constructed phylogenetic trees using the G6PD sequences from various regions in Indonesia and other countries. It appears from phylogenetic trees and percentages of identity that Flores Indonesian G6PD defi ciency (Jammu/Viangchan G6PD, originating in India) is 92.5% identical to the G6PD defi ciency of Chinese origin (GaoheG6PD). It was interesting to note that the genetic region containing the Javanese Indonesian G6PD defi ciency (MediterraneanG6PD, fi rst found in Italy) located in the western parts of Indonesia is closely related (99% identity) to the Chinese G6PD defi ciency(Coimbra G6PD). We conclude that G6PD mutations in West Indonesia are closely related to G6PD mutations from China. G6PD mutations in East Indonesia are also closely related to G6PD mutations from India and China, but more distantly, and to different types to those in West Indonesia. A prediction of protein structure was carried out which allowed visualization of the locations of mutation on the three dimensional structure of G6PD.

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“…Glucose-6-phosphate dehydrogenase (G6PD) enzyme is encoded by the G6PD gene, which is localized on the X chromosome (Xq28), spans over 18 kb, and is composed of 13 exons and 12 introns [1]. The G6PD is expressed in all cells and is responsible for the first reaction of the pentose phosphate pathway in which glucose-6-phosphate is oxidized to 6-phosphogluconolactone with concomitant production of NADPH [2].…”

Section: Introductionmentioning

confidence: 99%

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique

Yıldız

Ariyurek²,

Tahiroglu³

et al. 2011

aoms

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IntroductionNucleotide 1311 polymorphism at exon 11 of the glucose-6-phosphate dehydrogenase (G6PD) gene is fairly common in various populations worldwide, especially among Mediterranean populations. In this study, 1311 polymorphism in G6PD-deficient cases was identified by microarray technique.Material and methodsFour hundred and fifty clinically healthy subjects were screened and 32 cases were found to have G6PD deficiency (7.11%). Our analysis of genomic DNA samples from 32 G6PD-deficient individuals revealed that the number and percentage of subjects who had a C-to-T alteration at nucleotide 1311 were 21 and 4.7% respectively. Given that the frequency of 1311 polymorphism has been reported in previous studies to be fairly high among G6PD-deficient people with the Mediterranean mutation, our data seem to be inconsistent with what we would expect for this particular region.ResultsThe highly diverse ethnic background of the Adana population which probably results from the high level of immigration into this part of Turkey may be one of the most sensible explanations for this unexpected finding. Nevertheless, it seems that our results need to be confirmed in larger studies.ConclusionsThe polymorphism studies in the G6PD gene may help us to illuminate the genetic basis of the G6PD deficiency in different regions and in various ethnic groups, and also to discover the influence of a specific polymorphism on the clinical course of the deficiency.

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Definition of the Mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD ‘Lejeune’

Cited by 42 publications

References 11 publications

Glucose-6-Phosphate Dehydrogenase Variants in Hawaii

Glucose-6-Phosphate Dehydrogenase Variants in Hawaii

Phylogeny and Origin of Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency Mutations in Indonesia

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique

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