Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation
| dc.contributor.author | Lazaros, L. | en |
| dc.contributor.author | Hatzi, E. | en |
| dc.contributor.author | Bouba, I. | en |
| dc.contributor.author | Paraskevaidis, E. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.date.accessioned | 2015-11-24T19:01:48Z | |
| dc.date.available | 2015-11-24T19:01:48Z | |
| dc.identifier.issn | 1015-3837 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19725 | |
| dc.rights | Default Licence | - |
| dc.subject | Adult | en |
| dc.subject | Chromosomes, Human, Y | en |
| dc.subject | Female | en |
| dc.subject | *Gestational Age | en |
| dc.subject | Hemoglobinopathies/*diagnosis/genetics | en |
| dc.subject | Hemoglobins, Abnormal/*genetics | en |
| dc.subject | Heterozygote | en |
| dc.subject | Humans | en |
| dc.subject | Inheritance Patterns | en |
| dc.subject | Male | en |
| dc.subject | Molecular Diagnostic Techniques | en |
| dc.subject | Polymerase Chain Reaction | en |
| dc.subject | Pregnancy | en |
| dc.subject | Prenatal Diagnosis/*methods | en |
| dc.title | Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation | en |
| heal.abstract | OBJECTIVE: To perform a reliable non-invasive prenatal detection of the Hb Lepore paternal mutation and determine the fetal gender in the first trimester of pregnancy. METHODS: DNA was extracted from a serum sample obtained from a pregnant woman at the mid first trimester of gestation. Hb Lepore-specific, mutant and normal, primers as well as Y-chromosome-specific STSs were used to carry out the analysis. RESULTS: Paternal Hb Lepore and the DYS14 and DYZ1 gene-specific sequences were detected in the serum sample obtained at the 7th week of pregnancy. None of the above sequences was detectable in the maternal peripheral blood cell DNA. CONCLUSION: Conventional polymerase chain reaction analysis of cell-free fetal DNA can be used to determine fetal gender and paternal Hb Lepore as early as the 7th week of pregnancy. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1159/000095662 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/16969004 | - |
| heal.identifier.secondary | http://content.karger.com/ProdukteDB/produkte.asp?doi=10.1159/000095662 | - |
| heal.journalName | Fetal Diagn Ther | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2006 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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