Linked Life Data

8370579

Source:http://linkedlifedata.com/resource/pubmed/id/8370579

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-10-12
pubmed:abstractText
In the Ferrara district, an area south of the Po delta, four different variants of glucose-6-phosphate dehydrogenase (G6PD;E.C.1.1.49) have been described as a result of biochemical characterization of the enzyme protein: one was G6PD Mediterranean (G6PD Med) and three were local variants named Ferrara I, II, and III. The Ferrara I variant was recently analysed at the DNA level and shown to correspond to G6PD A376G/202A, while the mutations causing the variants II and III, still remain unknown. We analysed the G6PD coding region of 18 apparently unrelated G6PD deficient subjects, whose families have lived in the Ferrara district for at least three generations: 12 subjects had G6PD Med563T/1311T, 3, G6PD Santamaria376G/542T and 2, G6PD A-376G/202A. In one subject we found a new mutation, a G-->A transition at nucleotide 242 causing an Arg-->His amino-acid replacement at position 81. We named this new variant G6PD Lagosanto242 A. Phenotypically the enzyme has nearly normal kinetic properties and appears different from the variants Ferrara II and III.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
139-42
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district.
pubmed:affiliation
Istituto di Chimica Biologica, G. Forniani, Università di Urbino, Italy.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't