Source:http://linkedlifedata.com/resource/pubmed/id/18494377
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2008-5-22
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pubmed:abstractText |
A population sample from São Tomé e Príncipe (West Africa) was screened for the G6PD-deficient variants A- (376G/202A), Betica (376G/968C), and Santa Maria (376G/542T). G6PD locus haplotype diversity was also investigated using six intragenic RFLPs (FokI, PvuII, BspHI, PstI, BclI, NlaIII) and a (CTT)n microsatellite 18.61 kb within the G6PD locus. The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A- allele were 0.698, 0.194, and 0.108, respectively. G6PD variants Betica and Santa Maria were not found. Similar levels of microsatellite diversity were found on variants G6PD*B and G6PD*A (H = 0.61 and 0.68, respectively), indicating a similar age for both alleles. All G6PD*A- alleles share the RFLP-microsatellite haplotype ++(-)+(-)+/195, the same haplotype described in nearly all the *A-alleles from sub-Saharan, Mexican Mestizo, and Portuguese populations, consistent with a single and recent origin of the G202A mutation on this *A haplotype.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0018-7143
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
79
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
679-86
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pubmed:dateRevised |
2011-4-18
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pubmed:meshHeading |
pubmed-meshheading:18494377-Africa, Western,
pubmed-meshheading:18494377-Female,
pubmed-meshheading:18494377-Glucosephosphate Dehydrogenase,
pubmed-meshheading:18494377-Glucosephosphate Dehydrogenase Deficiency,
pubmed-meshheading:18494377-Haplotypes,
pubmed-meshheading:18494377-Humans,
pubmed-meshheading:18494377-Male,
pubmed-meshheading:18494377-Polymorphism, Genetic,
pubmed-meshheading:18494377-Polymorphism, Restriction Fragment Length
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pubmed:year |
2007
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pubmed:articleTitle |
G6PD deficient alleles and haplotype analysis of human G6PD locus in São Tomé e Príncipe (West Africa).
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pubmed:affiliation |
Departamento de Antropologia, Universidade de Coimbra, 3000 Coimbra, Portugal.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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