Publication
Single-Strand Conformation Polymorphism (SSCP) Analysis of the Molecular Pathology of Hemophilia B
| dc.contributor.author | David, D | |
| dc.contributor.author | Rosa, HA | |
| dc.contributor.author | Pemberton, S | |
| dc.contributor.author | Diniz, MJ | |
| dc.contributor.author | Campos, M | |
| dc.contributor.author | Lavinha, J | |
| dc.date.accessioned | 2018-08-06T15:30:38Z | |
| dc.date.available | 2018-08-06T15:30:38Z | |
| dc.date.issued | 1993 | |
| dc.description.abstract | In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct sequencing of the relevant DNA fragments unveiled the following sequence alterations: two novel mutations, namely FIXBarcelos Thr-380-Pro and FIXLousada 9bp insertion at position 31,309 or 31,318; five mutations previously reported in other ethnic groups (FIXPorto Arg-145-His, FIXLuanda Gly-207-Arg, FIXPenafiel Arg-248-Gln, FIXSesimbra Arg-333-Gln, FIXCascais Arg-333-Stop); and a normal variant, G-->T transvertion at position 6,596 in intron 2. We propose hypothetical models for the generation of the 9 bp duplication (FIXLousada). We have performed molecular modeling studies in order to predict the structure of the variant FIX molecules. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Hum Mutat. 1993;2(5):355-61. | pt_PT |
| dc.identifier.doi | 10.1002/humu.1380020506 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3014 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Wiley | pt_PT |
| dc.subject | Base Sequence | pt_PT |
| dc.subject | DNA | pt_PT |
| dc.subject | DNA, Single-Stranded | pt_PT |
| dc.subject | Factor IX | pt_PT |
| dc.subject | Hemophilia B | pt_PT |
| dc.subject | Humans | pt_PT |
| dc.subject | Molecular Sequence Data | pt_PT |
| dc.subject | Mutation | pt_PT |
| dc.subject | Nucleic Acid Conformation | pt_PT |
| dc.subject | Polymerase Chain Reaction | pt_PT |
| dc.subject | Polymorphism, Genetic | pt_PT |
| dc.subject | HSJ IMU | pt_PT |
| dc.title | Single-Strand Conformation Polymorphism (SSCP) Analysis of the Molecular Pathology of Hemophilia B | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 361 | pt_PT |
| oaire.citation.issue | 5 | pt_PT |
| oaire.citation.startPage | 355 | pt_PT |
| oaire.citation.title | Human Mutation | pt_PT |
| oaire.citation.volume | 2 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |