Sudanese (뫧)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
Hemoglobin
; 39(5): 368-70, 2015.
Article
em En
| MEDLINE
| ID: mdl-26154945
ABSTRACT
We report a case of δß-thalassemia (δß-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the ß-globin gene.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Talassemia delta
/
Globinas beta
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Globinas delta
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article