A novel deletion/insertion caused by a replication error in the ß-globin gene locus control region.
Hemoglobin
; 35(4): 316-22, 2011.
Article
en En
| MEDLINE
| ID: mdl-21797698
Deletions in the ß-globin locus control region (ß-LCR) lead to (εγδß)(0)-thalassemia [(εγδß)(0)-thal]. In patients suffering from these rare deletions, a normal hemoglobin (Hb), phenotype is found, contrasting with a hematological thalassemic phenotype. Multiplex-ligation probe amplification (MLPA) is an efficient tool to detect ß-LCR deletions combined with long-range polymerase chain reaction (PCR) and DNA sequencing to pinpoint deletion breakpoints. We present here a novel 11,155 bp ß-LCR deletion found in a French Caucasian patient which removes DNase I hypersensitive site 2 (HS2) to HS4 of the ß-LCR. Interestingly, a 197 bp insertion of two inverted sequences issued from the HS2-HS3 inter-region is present and suggests a complex rearrangement during replication. Carriers of this type of thalassemia can be misdiagnosed as an α-thal trait. Consequently, a complete α- and ß-globin gene cluster analysis is required to prevent a potentially damaging misdiagnosis in genetic counselling.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutagénesis Insercional
/
Eliminación de Secuencia
/
Globinas beta
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Hemoglobin
Año:
2011
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Reino Unido