Publication
Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7kb α-thalassemia deletion
| dc.contributor.author | Pena, Rita | |
| dc.contributor.author | Lopes, Pedro | |
| dc.contributor.author | Gaspar, Gisela | |
| dc.contributor.author | Miranda, Armandina | |
| dc.contributor.author | Faustino, Paula | |
| dc.date.accessioned | 2024-01-04T13:59:30Z | |
| dc.date.available | 2024-01-04T13:59:30Z | |
| dc.date.issued | 2022-11-08 | |
| dc.description.abstract | The α-major regulatory element (known as HS-40) has a crucial role in the long-range regulation of the α-globin gene expression. This element is genetically polymorphic and six haplotypes (A to F) have been identified in different populations, with haplotype D almost exclusively found in African populations. This study aimed to identify the HS-40 haplotype associated with the common 3.7kb α-thalassemia deletion (-α3.7del) in the Portuguese population, and investigate its ancestry. We searched for the -α3.7del in 111 selected Portuguese individuals by Gap-PCR. In addition, a DNA fragment containing the HS-40 was amplified by PCR and Sanger sequenced. Statistical analysis was performed using R software. Fifty individuals have the wild-type α-globin genotype (group I), 34 are heterozygous for the -α3.7del (group II) and 27 are homozygous (group III). Regarding the HS-40, four haplotypes were found (A to D). The distribution of HS-40 haplotypes and genotypes are significantly different between groups with and without the -α3.7del (p<0.001), being haplotype D and genotype AD the most prevalent in group III. Furthermore, multiple correspondence analysis revealed that individuals without the -α3.7del are grouped with other European populations, while samples with the -α3.7del are split from these and found more related to the African population. This study revealed for the first time an association of a specific HS-40 haplotype with the -α3.7del in the Portuguese population, and its likely African ancestry. These results may have a clinical importance as in vitro analysis of haplotype D showed a descrease in its enhancer activity on α-globin genes. | pt_PT |
| dc.description.version | info:eu-repo/semantics/draft | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8843 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Alfa-talassémia | pt_PT |
| dc.subject | HS-40 | pt_PT |
| dc.subject | Regulação Génica | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.subject | África | pt_PT |
| dc.title | Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7kb α-thalassemia deletion | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | 3º dia do Jovem Investigador INSA, INSA, 8 novembro 2022 | pt_PT |
| person.familyName | Faustino | |
| person.givenName | Paula | |
| person.identifier.ciencia-id | F01A-353A-433E | |
| person.identifier.orcid | 0000-0002-6269-4867 | |
| person.identifier.rid | M-3519-2014 | |
| person.identifier.scopus-author-id | 8158641100 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isAuthorOfPublication | 94303e78-8b7d-4e24-811d-3af3b1a4e330 | |
| relation.isAuthorOfPublication.latestForDiscovery | 94303e78-8b7d-4e24-811d-3af3b1a4e330 |