Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-7-28
pubmed:abstractText
Glucose-6-phosphate dehydrogenase Mediterranean (G6PD Med) is a common G6PD variant around the Mediterranean Sea characterized by severe enzyme deficiency and B-like electrophoretic mobility. The molecular basis of G6PD Med is a single C-->T transition at nucleotide (NT) 563. A polymorphic site exists in exon 11 of G6PD gene: in the wild-type NT 1311 is a C (1311C), but in some individuals from diverse populations a T (1311T) is present instead. Recent studies suggest that this C-->T transition is in linkage disequilibrium with G6PD Med genotype. In the normal population of Southern Italy (Sicily and Calabria) who is at risk for G6PD Med the NT 1311 allelic frequency is 16.7-20%; no data are available for the other regions. We screened the population of Marche region, Central Italy, in order to know the percentage of this polymorphism in an area not at risk for G6PD Med: we found that the 1311T frequency is about one half of that found in Southern Italy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1019-6773
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
22-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Glucose-6-phosphate dehydrogenase nucleotide 1311 polymorphism in central Italy (Marche Region).
pubmed:affiliation
Institute of Biological Chemistry G. Fornaini, University of Urbino, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't