التفاصيل البيبلوغرافية
| العنوان: |
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 |
| المؤلفون: |
Pena, Rita, Lopes, Pedro, Gaspar, Gisela, Miranda, Armandina, Faustino, Paula |
| المساهمون: |
Repositório Científico do Instituto Nacional de Saúde |
| سنة النشر: |
2022 |
| مصطلحات موضوعية: |
Doenças Genéticas, Alfa-talassémia, HS-40, Regulação Génica, Portugal, África |
| الوصف: |
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. |
| وصف الملف: |
application/vnd.openxmlformats-officedocument.presentationml.presentation |
| اللغة: |
English |
| الاتاحة: |
http://hdl.handle.net/10400.18/8843 |
| Rights: |
open access |
| رقم الانضمام: |
rcaap.com.rinsa.repositorio.insa.pt.10400.18.8843 |
| قاعدة البيانات: |
RCAAP |