“Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE” (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• “Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE” (Articolo in rivista) (literal)

Anno

• 2004-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.20088 (literal)

Alternative label

• Lacerra G.; Fiorito M.; Musollino G.; Di Noce F.; Esposito M.; Nigro V.; Gaudiano C.; Carestia C. (2004)
  “Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE”
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Lacerra G.; Fiorito M.; Musollino G.; Di Noce F.; Esposito M.; Nigro V.; Gaudiano C.; Carestia C. (literal)

Pagina inizio

• 338 (literal)

Pagina fine

• 349 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 24 (literal)

Rivista

• Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 4 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

• PUBBLICAZIONE (literal)

Note

• ISI Web of Science (WOS) (literal)
• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Istituto di Genetica e Biofisica ''Adriano Buzzati Traverso,'' Consiglio Nazionale delle Ricerche, Napoli, Italy; Telethon Institute of Genetics and Medicine, Napoli, Italy; Dipartimento di Patologia Generale, Seconda Universit`a degli Studi, Napoli, Italy; Centro per la lotta alle Microcitemie, Ospedale Madonna delle Grazie, ASL4, Matera, Italy (literal)

Titolo

• “Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE” (literal)

Abstract

• The alpha-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5'-3') showing overall sequence homology >96% and average CG content >60%. Alpha-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused by sequence variations of these genes in about 25% of carriers. We evaluated the overall sensitivity and suitability of DHPLC and DG-DGGE in scanning both the alpha-globin genes by carrying out a retrospective analysis of 19 variant alleles in 29 genotypes. The HBA2 alleles c.1A>G, c.79G>A, and c.281T>G, and the HBA1 allele c.475C>A were new. Three pathogenic sequence variations were associated in cis with nonpathogenic variations in all families studied; they were the HBA2 variation c.2T>C associated with c.-24C>G, and the HBA2 variations c.391G>C and c.427T>C, both associated with c.565G>A. We set up original experimental conditions for DHPLC and DG-DGGE and analyzed 10 normal subjects, 46 heterozygotes, seven homozygotes, seven compound heterozygotes, and six compound heterozygotes for a hybrid gene. Both the methodologies gave reproducible results and no false-positive was detected. DHPLC showed 100% sensitivity and DG-DGGE nearly 90%. About 100% of the sequence from the cap site to the polyA addition site could be scanned by DHPLC, about 87% by DG-DGGE. It is noteworthy that the three most common pathogenic sequence variations (HBA2 alleles c.2T>C, c.95+2_95+6del, and c.523A>G) were unambiguously detected by both the methodologies. Genotype diagnosis must be confirmed with PCR sequencing of single amplicons or with an allele-specific method. This study can be helpful for scanning genes with high CG content and offers a model suitable for duplicated genes with high homology. Hum Mutat 24:338-349, 2004. (literal)

Prodotto di

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR

• ROMEO PREZIOSO (Unità di personale interno)
• GENNARO MUSOLLINO (Persona)
• CLEMENTINA CARESTIA (Persona)
• GIUSEPPINA LACERRA (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "“Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE”" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR di

• CLEMENTINA CARESTIA (Persona)
• GENNARO MUSOLLINO (Persona)
• GIUSEPPINA LACERRA (Unità di personale interno)
• ROMEO PREZIOSO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Parole chiave di "“Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE”" (Insieme di parole chiave)