@prefix pubblicazioni: . @prefix unitaDiPersonaleInterno: . @prefix prodotto: . unitaDiPersonaleInterno:MATRICOLA29550 pubblicazioni:autoreCNRDi prodotto:ID223290 . @prefix prodottidellaricerca: . @prefix istituto: . istituto:CDS039 prodottidellaricerca:prodotto prodotto:ID223290 . unitaDiPersonaleInterno:MATRICOLA13901 pubblicazioni:autoreCNRDi prodotto:ID223290 . unitaDiPersonaleInterno:MATRICOLA29552 pubblicazioni:autoreCNRDi prodotto:ID223290 . unitaDiPersonaleInterno:MATRICOLA20074 pubblicazioni:autoreCNRDi prodotto:ID223290 . unitaDiPersonaleInterno:MATRICOLA8309 pubblicazioni:autoreCNRDi prodotto:ID223290 . @prefix rdf: . @prefix retescientifica: . prodotto:ID223290 rdf:type retescientifica:ProdottoDellaRicerca , prodotto:TIPO1101 . @prefix rdfs: . prodotto:ID223290 rdfs:label "Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency revealed by single strand conformation and sequence analysis (Articolo in rivista)"@en . @prefix xsd: . prodotto:ID223290 pubblicazioni:anno "1993-01-01T00:00:00+01:00"^^xsd:gYear . @prefix skos: . prodotto:ID223290 skos:altLabel "
Calabr\u00F2 V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L. (1993)
Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency revealed by single strand conformation and sequence analysis
in American journal of human genetics
"^^rdf:HTML ; pubblicazioni:autori "Calabr\u00F2 V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L."^^xsd:string ; pubblicazioni:paginaInizio "527"^^xsd:string ; pubblicazioni:paginaFine "537"^^xsd:string ; pubblicazioni:numeroVolume "52"^^xsd:string . @prefix ns10: . prodotto:ID223290 pubblicazioni:rivista ns10:ID386546 ; skos:note "ISI Web of Science (WOS)"^^xsd:string ; pubblicazioni:affiliazioni "[ 1 ] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,DU CANE RD,LONDON W12 0NN,ENGLAND\n[ 2 ] CNR,IST INT GENET & BIOFIS,NAPLES,ITALY\n[ 3 ] CNR,IST MALATTIE EREDITARIE & CARENZIALI,COSENZA,ITALY"^^xsd:string ; pubblicazioni:titolo "Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency revealed by single strand conformation and sequence analysis"^^xsd:string ; prodottidellaricerca:abstract "We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 53 male subjects from Calabria, in southern Italy. Our sequential approach consisted of the following steps: (1) Partial biochemical characterization was used to pinpoint candidate known variants. The identity of these was then verified by restriction-enzyme or allele-specific oligonucleotide hybridization analysis of the appropriate PCR-amplified fragment. (2) On samples for which there was no obvious candidate mutation, we proceeded to amplify the entire coding region in eight fragments, followed by single-strand conformation polymorphism (SSCP) analysis of each fragment. (3) The next step was M13 phage cloning and sequencing of those individual fragments that were found to be abnormal by SSCP. Through this approach we have identified the molecular lesion in 51 of the 53 samples. In these we found a total of nine different G6PD-deficient variants, five of which (G6PD Mediterranean, G6PD A-, G6PD Coimbra, G6PD Seattle, and G6PD Montalbano) were already known, whereas four are new (G6PD Cassano, G6PD Cosenza, G6PD Sibari, and G6PD Maewo). G6PD Mediterranean is the commonest variant, followed by G6PD Seattle. At least seven of the variants are present, at polymorphic frequencies, in the Calabria region, and some have a nonrandom distribution within the region. This study shows that the genetic heterogeneity of G6PD deficiency in Calabria, when analyzed at the DNA level, is even greater than had been anticipated from biochemical characterization. The sequential approach that we have followed is fast and efficient and could be applied to other populations."@en ; prodottidellaricerca:prodottoDi istituto:CDS039 ; pubblicazioni:autoreCNR unitaDiPersonaleInterno:MATRICOLA20074 , unitaDiPersonaleInterno:MATRICOLA29550 , unitaDiPersonaleInterno:MATRICOLA29552 , unitaDiPersonaleInterno:MATRICOLA8309 , unitaDiPersonaleInterno:MATRICOLA13901 . ns10:ID386546 pubblicazioni:rivistaDi prodotto:ID223290 .